rubinstein taybi syndrome

Summary

Summary: A chromosomal disorder characterized by MENTAL RETARDATION, broad thumbs, webbing of fingers and toes, beaked nose, short upper lip, pouting lower lip, agenesis of corpus callosum, large foramen magnum, keloid formation, pulmonary stenosis, vertebral anomalies, chest wall anomalies, sleep apnea, and megacolon. The disease has an autosomal dominant pattern of inheritance and is associated with deletions of the short arm of chromosome 16 (16p13.3).

Top Publications

  1. ncbi Defect of histone acetyltransferase activity of the nuclear transcriptional coactivator CBP in Rubinstein-Taybi syndrome
    T Murata
    Department of Pediatrics, Graduate School of Medicine, University of Tokyo, Tokyo 113 8655, Japan
    Hum Mol Genet 10:1071-6. 2001
  2. ncbi Loss of CBP acetyltransferase activity by PHD finger mutations in Rubinstein-Taybi syndrome
    Eric Kalkhoven
    Department of Molecular Cell Biology, MGC Centre for Biomedical Genetics, Leiden University Medical Centre, Wassenaarseweg 72, 2333 AL Leiden, The Netherlands
    Hum Mol Genet 12:441-50. 2003
  3. ncbi DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein-Taybi syndrome (RSTS) and in another patient with incomplete RSTS
    Oliver Bartsch
    Institut fur Humangenetik, Klinikum, Universitat Mainz, 55101, Mainz, Germany
    Hum Genet 117:485-93. 2005
  4. ncbi Spontaneous patella dislocation in Rubinstein Taybi Syndrome
    J Sánchez Lázaro
    Department of Trauma Orthopaedics, Hospital de Leon, Leon, 24071 Spain
    Knee 14:68-70. 2007
  5. pmc Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease
    Jeroen H Roelfsema
    Center for Human and Clinical Genetics, Leiden University Medical Center, Sylvius Laboratory, Leiden, The Netherlands
    Am J Hum Genet 76:572-80. 2005
  6. pmc Molecular analysis of the CBP gene in 60 patients with Rubinstein-Taybi syndrome
    I Coupry
    J Med Genet 39:415-21. 2002
  7. ncbi FISH studies in 45 patients with Rubinstein-Taybi syndrome: deletions associated with polysplenia, hypoplastic left heart and death in infancy
    O Bartsch
    Institute of Clinical Genetics, Technical University, Dresden, Germany
    Eur J Hum Genet 7:748-56. 1999
  8. ncbi Analysis of CBP (CREBBP) gene deletions in Rubinstein-Taybi syndrome patients using real-time quantitative PCR
    Isabelle Coupry
    Laboratoire de Génétique Humaine, Développement et Cancer, Universite Victor Segalen Bordeaux 2, Bordeaux, France
    Hum Mutat 23:278-84. 2004
  9. pmc Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP
    O Bartsch
    J Med Genet 39:496-501. 2002
  10. ncbi CBP, a transcriptional coactivator and acetyltransferase
    K J McManus
    Department of Oncology, University of Alberta, Cross Cancer Institute, Edmonton, Canada
    Biochem Cell Biol 79:253-66. 2001

Detail Information

Publications159 found, 100 shown here

  1. ncbi Defect of histone acetyltransferase activity of the nuclear transcriptional coactivator CBP in Rubinstein-Taybi syndrome
    T Murata
    Department of Pediatrics, Graduate School of Medicine, University of Tokyo, Tokyo 113 8655, Japan
    Hum Mol Genet 10:1071-6. 2001
    ..Our findings raise the possibility that treatment of RTS patients with histone deacetylase inhibitors might have beneficial effects...
  2. ncbi Loss of CBP acetyltransferase activity by PHD finger mutations in Rubinstein-Taybi syndrome
    Eric Kalkhoven
    Department of Molecular Cell Biology, MGC Centre for Biomedical Genetics, Leiden University Medical Centre, Wassenaarseweg 72, 2333 AL Leiden, The Netherlands
    Hum Mol Genet 12:441-50. 2003
    ..These findings therefore underscore the functional importance of the PHD finger in vivo and imply that reduction of CBP HAT activity, as exemplified here by disruption of the PHD finger, is sufficient to cause RTS...
  3. ncbi DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein-Taybi syndrome (RSTS) and in another patient with incomplete RSTS
    Oliver Bartsch
    Institut fur Humangenetik, Klinikum, Universitat Mainz, 55101, Mainz, Germany
    Hum Genet 117:485-93. 2005
    ....
  4. ncbi Spontaneous patella dislocation in Rubinstein Taybi Syndrome
    J Sánchez Lázaro
    Department of Trauma Orthopaedics, Hospital de Leon, Leon, 24071 Spain
    Knee 14:68-70. 2007
    A patient with Rubinstein Taybi Syndrome ( RTS) was found to have spontaneous patella dislocation and spontaneous patella reduction. Clinical examination revealed ligamentous laxity and reducible patella...
  5. pmc Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease
    Jeroen H Roelfsema
    Center for Human and Clinical Genetics, Leiden University Medical Center, Sylvius Laboratory, Leiden, The Netherlands
    Am J Hum Genet 76:572-80. 2005
    ..We extended the search for mutations to the EP300 gene and showed that mutations in EP300 also cause this disorder. These are the first mutations identified in EP300 for a congenital disorder...
  6. pmc Molecular analysis of the CBP gene in 60 patients with Rubinstein-Taybi syndrome
    I Coupry
    J Med Genet 39:415-21. 2002
  7. ncbi FISH studies in 45 patients with Rubinstein-Taybi syndrome: deletions associated with polysplenia, hypoplastic left heart and death in infancy
    O Bartsch
    Institute of Clinical Genetics, Technical University, Dresden, Germany
    Eur J Hum Genet 7:748-56. 1999
    ..The signs suggest a developmental field defect (disturbance of laterality) either as a newly recognised pattern of RTS, or alternatively a novel contiguous gene syndrome...
  8. ncbi Analysis of CBP (CREBBP) gene deletions in Rubinstein-Taybi syndrome patients using real-time quantitative PCR
    Isabelle Coupry
    Laboratoire de Génétique Humaine, Développement et Cancer, Universite Victor Segalen Bordeaux 2, Bordeaux, France
    Hum Mutat 23:278-84. 2004
    ..Our results therefore suggest that real-time quantitative PCR is a useful technique to be included in the deletion search in RTS patients...
  9. pmc Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP
    O Bartsch
    J Med Genet 39:496-501. 2002
  10. ncbi CBP, a transcriptional coactivator and acetyltransferase
    K J McManus
    Department of Oncology, University of Alberta, Cross Cancer Institute, Edmonton, Canada
    Biochem Cell Biol 79:253-66. 2001
    ..We will also examine the regulation of the CBP histone acetyltransferase activity in the cell cycle, by signal-transduction pathways and throughout development...
  11. ncbi Construction of a 1.2-Mb contig surrounding, and molecular analysis of, the human CREB-binding protein (CBP/CREBBP) gene on chromosome 16p13.3
    R H Giles
    Department of Human Genetics, Leiden University, The Netherlands
    Genomics 42:96-114. 1997
    ..We report here the cloning, physical mapping, characterization, and full cDNA nucleotide sequence of the human CBP gene...
  12. ncbi Syndromes of disordered chromatin remodeling
    J Ausio
    Department of Biochemistry and Microbiology, University of Victoria, Victoria, British Columbia, Canada
    Clin Genet 64:83-95. 2003
    ....
  13. pmc A mouse model of Rubinstein-Taybi syndrome: defective long-term memory is ameliorated by inhibitors of phosphodiesterase 4
    Rusiko Bourtchouladze
    Helicon Therapeutics, Inc, One Bioscience Park Drive, Farmingdale, NY 11743, USA
    Proc Natl Acad Sci U S A 100:10518-22. 2003
    ..Our results suggest that PDE4 inhibitors may be used to treat the cognitive dysfunction of RTS patients...
  14. ncbi Multiple meningiomas in a patient with Rubinstein-Taybi syndrome. Case report
    Marco J T Verstegen
    Departments of Neurosurgery and Neuropathology, Academic Medical Center, University of Amsterdam, The Netherlands
    J Neurosurg 102:167-8. 2005
    ..The patient harbored a bifrontal ossifying meningioma and multiple intracranial meningiomas. She underwent surgery for the frontal ossifying meningioma and a right frontoparietal meningioma...
  15. ncbi [Cofactor diseases]
    Toshihiko Yanase
    Nihon Naika Gakkai Zasshi 92:324-9. 2003
  16. ncbi The duplicated longitudinal epiphysis or "kissing delta phalanx": evolution and variation in three different disorders
    Alison M Elliott
    Department of Biochemistry and Medical Genetics, University of Manitoba, 770 Bannatyne Avenue, Winnipeg, Manitoba, R3E 0W3, Canada
    Skeletal Radiol 33:345-51. 2004
    ..Magnetic resonance imaging of the kissing delta phalanx has not been previously described...
  17. pmc Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients
    Angela Bentivegna
    Division of Medical Genetics, San Paolo School of Medicine, University of Milan, Italy
    BMC Med Genet 7:77. 2006
    ..3. To date mutations in CREBBP have been reported in 56.6% of RSTS patients and an average figure of 10% has ascribed to deletions...
  18. pmc Genetic heterogeneity in Rubinstein-Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300
    Deborah Bartholdi
    J Med Genet 44:327-33. 2007
    ..Recently, it was shown that mutations in EP300, coding for the p300 protein, also cause RSTS. CBP and EP300 are highly homologous genes, which play important roles as global transcriptional coactivators...
  19. ncbi Coregulator-related diseases
    Toshihiko Yanase
    Department of Medicine and Bioregulatory Science, Graduate School of Medical Science, Kyushu University, 3 1 1 Maidashi, Higashi ku, Fukuoka 812 8582
    Intern Med 43:368-73. 2004
    ..Based on these observations, the clinical disorders associated with some coregulator abnormalities were reviewed...
  20. ncbi Kimura disease in a patient with Rubinstein-Taybi syndrome
    Chan Jong Kim
    Department of Pediatrics, Chonnam National University Medical School, Gwangju, Korea
    Pediatr Int 46:609-11. 2004
  21. ncbi A 15-year-old boy with Rubinstein-Taybi syndrome associated with severe congenital malalignment of the toenails
    Sevim Balci
    Department of Clinical Genetics, Hacettepe University, Ihsan Dogramaci Children s Hospital, Turkey
    Pediatr Dermatol 21:44-7. 2004
    ..We report a patient with characteristic manifestations of RTS and congenital malalignment of the great toenails. The association of these two entities has not been reported previously...
  22. ncbi Rubinstein-Taybi syndrome: molecular findings and therapeutic approaches to improve cognitive dysfunction
    T M Hallam
    Helicon Therapeutics, Inc, One Bioscience Park Drive, Farmingdale, New York 11735, USA
    Cell Mol Life Sci 63:1725-35. 2006
    ..Finally, we will discuss novel therapeutic approaches targeted to CBP/CREB function for treating the cognitive dysfunction of RTS and other neurological disorders...
  23. ncbi Rubinstein-Taybi syndrome: clinical and molecular overview
    Jeroen H Roelfsema
    Department of Human Genetics, Center for Human and Clinical Genetics, Leiden University Medical Center, 2300 RC Leiden, The Netherlands
    Expert Rev Mol Med 9:1-16. 2007
    ..Here, we describe the clinical presentation of Rubinstein-Taybi syndrome, review the mutation spectrum and discuss the current understanding of causative molecular mechanisms...
  24. ncbi Rubinstein-Taybi syndrome in children with tethered spinal cord
    Tomoko Tanaka
    Department of Neurosurgery, Cincinnati Children s Hospital Medical Center, Ohio, USA
    J Neurosurg 105:261-4. 2006
    ..They also reviewed the literature and did not find any published series describing such an association with this syndrome...
  25. ncbi Morphometric analysis of face in dysmorphology
    Ashwin B Dalal
    Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh 226014, India
    Comput Methods Programs Biomed 85:165-72. 2007
    ..We obtained photographs of 20 individuals with Rubinstein Taybi syndrome and 30 normal, age and sex matched individuals...
  26. ncbi Oro-dental features as useful diagnostic tool in Rubinstein-Taybi syndrome
    A Bloch-Zupan
    Faculte de Chirurgie Dentaire, Universite Louis Pasteur, Strasbourg, France
    Am J Med Genet A 143:570-3. 2007
    ..Eruption was usually normal. Specific attention for these anomalies should facilitate diagnosis and help adequate management...
  27. ncbi Small molecule modulators in epigenetics: implications in gene expression and therapeutics
    V Swaminathan
    Transcription and Disease Laboratory, Molecular Biology and Genetics Unit Jawaharlal Nehru Centre for Advanced Scientific Research, Jakkur, P O, Bangalore 560064, India
    Subcell Biochem 41:397-428. 2007
    ..modifying enzymes involved in gene regulation, their connection to disease manifestation and focuses on the role of small molecule modulators in understanding enzyme function and also the design and the evolution of chromatin therapeutics..
  28. ncbi Cardiac malformations, adrenal agenesis, neural crest defects and exencephaly in mice lacking Cited2, a new Tfap2 co-activator
    S D Bamforth
    Department of Cardiovascular Medicine, University of Oxford, Wellcome Trust Center for Human Genetics, Roosevelt Drive, Oxford, OX3 7BN UK
    Nat Genet 29:469-74. 2001
    ..As certain Tfap2 isoforms are essential in neural crest, neural tube and cardiac development, we propose that abnormal embryogenesis in mice lacking Cited2 results, at least in part, from its role as a Tfap2 co-activator...
  29. ncbi Pilomatrixoma of the head and neck
    Chih Chieh Chuang
    Division of Otolaryngology, Taipei Municipal Yang Ming Hospital, Taipei, Taiwan, ROC
    J Chin Med Assoc 67:633-6. 2004
    ..This benign tumor may be misdiagnosed as a carcinoma, resulting in unnecessary aggressive therapy. Otolaryngologists should therefore note the clinical and pathologic characteristics of these symptoms...
  30. ncbi DHPLC in clinical molecular diagnostic services
    Kenjiro Kosaki
    Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan
    Mol Genet Metab 86:117-23. 2005
    ..Using the COPPER plate system, we are functioning as a reference laboratory for the clinical molecular diagnosis of congenital malformation syndromes and are presently analyzing more than 200 samples annually from all over Japan...
  31. ncbi Developmentally regulated expression of the transcriptional cofactors/histone acetyltransferases CBP and p300 during mouse embryogenesis
    A Partanen
    Program in Developmental Biology, The Hospital for Sick Children, and Institute of Medical Science, University of Toronto, Ontario, Canada
    Int J Dev Biol 43:487-94. 1999
    ..Taken together, our results suggest that there are common, as well as distinct, biochemical functions of CBP and p300 during mouse development...
  32. ncbi Expression of the nuclear coactivators CBP and p300 in developing craniofacial tissue
    D R Warner
    University of Louisville Birth Defects Center, Kentucky 40292, USA
    In Vitro Cell Dev Biol Anim 38:48-53. 2002
    ..These studies lay the groundwork for further investigations into the role of CBP and p300 in cellular signaling during craniofacial development...
  33. ncbi Remodeling chromatin and stress resistance in the central nervous system: histone deacetylase inhibitors as novel and broadly effective neuroprotective agents
    Brett Langley
    Burke Medical Research Institute, White Plains, NY 10605, USA
    Curr Drug Targets CNS Neurol Disord 4:41-50. 2005
    ..These studies demonstrate that pharmacological HDAC inhibition is a promising therapeutic approach for the treatment of a range of central nervous system disorders...
  34. ncbi Constitutive phosphorylation of ATM in lymphoblastoid cell lines from patients with ICF syndrome without downstream kinase activity
    Jimena V Goldstine
    Department of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, CA 90095, USA
    DNA Repair (Amst) 5:432-43. 2006
    ..Immunodeficiency, Centromeric instability, Facial anomalies (ICF) syndrome, Coffin Lowry syndrome, Rubinstein Taybi syndrome and Fascioscapulohumeral Muscular Dystrophy...
  35. ncbi Creating zinc monkey wrenches in the treatment of epigenetic disorders
    Jay Hans Kalin
    University of Illinois at Chicago, Department of Medicinal Chemistry, 833 South Wood Street, Chicago, IL 60612, USA
    Curr Opin Chem Biol 13:263-71. 2009
    ..Based on the diverse utility and wide range of mechanistic actions observed with this class of drugs, the future development of better drug combination therapies and more selective HDACIs is warranted...
  36. ncbi Multiple pilomatricomas and gliomatosis cerebri--a new association?
    Tina Wachter-Giner
    Department of Dermatology, University of Wuerzburg, Germany
    Pediatr Dermatol 26:75-8. 2009
    ..This is the first published case of a patient suffering from gliomatosis cerebri and developing multiple pilomatricomas. Whether this observation represents a new association or is a mere coincidence cannot be clarified at present...
  37. pmc A case of Rubinstein-Taybi Syndrome with a CREB-binding protein gene mutation
    Se Hee Kim
    Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea
    Korean J Pediatr 53:718-21. 2010
    ..Here, we describe a typical RTS patient with Arnold-Chiari malformation. A mutation in the CREBBP gene, c.4944_4945insC, was identified by mutational analysis...
  38. ncbi Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome
    Bernard Thienpont
    Center for Human Genetics, K U Leuven, Herestraat 49 Box 602, Leuven 3000, Belgium
    J Med Genet 47:155-61. 2010
    ..A detailed phenotypic delineation of interstitial 16p13.3 duplications is hampered by the scarcity of such patients...
  39. ncbi Spectrum of CREBBP mutations in Indian patients with Rubinstein-Taybi syndrome
    Neeti Sharma
    National Centre for Cell Science, NCCS Complex, Pune University Complex, Ganeshkhind, Pune 411 007, India
    J Biosci 35:187-202. 2010
    ..Moreover, identification of the association of CREBBP polymorphisms with disease susceptibility could be an important risk factor for the pathogenesis of RSTS...
  40. ncbi [Anesthesia for a boy with Rubinstein-Taybi syndrome]
    F Lopez-Soriano
    Rev Esp Anestesiol Reanim 54:257-8. 2007
  41. ncbi Multiple pilomatricomas in association with trisomy 9
    Bruno Blaya
    Department of Dermatology, Cruces Hospital, Baracaldo, Vizcaya, Spain
    Pediatr Dermatol 26:482-4. 2009
    ..We present a case of association of multiple pilomatricoma and trisomy 9, which represents the third published in literature. As a result of the small prevalence of these two entities, we believe they could be related...
  42. ncbi [Tooth and oral mucosa hereditary anomalies in complex syndromes characterized by hyper- or hypotrichosis]
    L Giannetti
    Sezione di Odontostomatologia, Dipartimento Misto Neuroscienze, Testa e Collo, Riabilitazione, Universita degli Studi di Modena, Modena, Italy
    Minerva Stomatol 52:25-30. 2003
    ..Waiting for a more comprehensive genetic definition and classification, these anomalies are grouped according to the hair defect (hypotrichosis, hypertrichosis and mixed-type)...
  43. pmc Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein-Taybi syndrome detected by aCGH
    Anne Chun Hui Tsai
    The Children s Hospital, Section of Clinical Genetics and Metabolism, Denver, UC Denver, Aurora, CO, USA
    Eur J Hum Genet 19:43-9. 2011
    ....
  44. ncbi CREBBP re-arrangements affect protein function and lead to aberrant neuronal differentiation
    Neeti Sharma
    National Centre for Cell Science, NCCS Complex, Pune University Complex, Ganeshkhind, Pune 411 007, India
    Differentiation 79:218-31. 2010
    ..Thus, differentiation defects are manifested early at the genomic level leading to aberrant transcription of the genes involved in differentiation along the neuronal lineage...
  45. pmc Abnormal skeletal patterning in embryos lacking a single Cbp allele: a partial similarity with Rubinstein-Taybi syndrome
    Y Tanaka
    Laboratory of Molecular Genetics, Tsukuba Life Science Center, RIKEN, Tsukuba, Ibaraki 305, Japan
    Proc Natl Acad Sci U S A 94:10215-20. 1997
    ....
  46. ncbi Extensive brain hemorrhage and embryonic lethality in a mouse null mutant of CREB-binding protein
    Y Tanaka
    Laboratory of Molecular Genetics, RIKEN Tsukuba Institute, and CREST Core Research for Evolutional Science and Technology Research Project, JST Japan Science and Technology Corporation, Tsukuba, 305 0074, Ibaraki, Japan
    Mech Dev 95:133-45. 2000
    ..Since both Cbp and p300 are ubiquitously expressed in embryonic tissues including the developing heart, these results suggest that cardiac anomalies observed in RTS patients may be caused by a dominant negative effect of mutant CBP...
  47. ncbi [Learning and memory]
    Paul Lombroso
    Yale Child Study Center, USA
    Rev Bras Psiquiatr 26:207-10. 2004
    ..Neurofibromatosis, Coffin-Lowry syndrome and Rubinstein-Taybi syndrome are three examples of developmental disorders that have mutations in key components of the MAP kinase signaling pathway...
  48. ncbi Tension pneumothorax during laparoscopic Nissen fundoplication in a child
    Yuki Sato
    J Clin Anesth 19:162-3. 2007
  49. ncbi [Microdeletion syndromes]
    E Seemanova
    Oddelení klinické genetiky Ustavu biologie a lékarské genetiky 2 LF UK, Praha
    Cas Lek Cesk 141:363-70. 2002
    ....
  50. ncbi [Rubinstein-Taybi syndrome: a familial form ]
    N El Hafidi
    Arch Pediatr 11:978-9. 2004
  51. ncbi Improved haemodynamics with sevoflurane in laminectomy in a child with Rubinstein-Taybi syndrome
    A Y C Wong
    Anaesth Intensive Care 33:684-5. 2005
  52. ncbi Dental treatment of a child with Rubinstein-Taybi syndrome
    Esti Davidovich
    Department of Pediatric Dentistry, The Hebrew University, Hadassah School of Dental Medicine, Jerusalem, Israel
    Pediatr Dent 27:385-8. 2005
    ..The GA process was uneventful, despite the extensive treatment delivered to the patient. Prospects for future good oral and dental status in this patient are questionable because of her extreme lack of cooperation...
  53. ncbi Screening for partial deletions in the CREBBP gene in Rubinstein-Taybi syndrome patients using multiplex PCR/liquid chromatography
    Toru Udaka
    Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan
    Genet Test 10:265-71. 2006
    ..We conclude that large deletions including several exons are a relatively frequent cause of RTS, and that MP/LC is an effective method for detecting these deletions...
  54. ncbi Hedgehog signaling update
    M Michael Cohen
    Department of Pediatrics, Faculty of Medicine, Dalhousie University, Halifax, Nova Scotia, Canada
    Am J Med Genet A 152:1875-914. 2010
    ....
  55. ncbi Keloids in Rubinstein-Taybi syndrome: a clinical study
    A L van de Kar
    Department of Plastic Surgery, Academic Medical Center, University of Amsterdam, Amsterdam, 1105 AZ, the Netherlands Department of Plastic Surgery, Onze Lieve Vrouwe Gasthuis, Amsterdam, The Netherlands
    Br J Dermatol 171:615-21. 2014
    ..One of the complications is keloid formation. Keloids are proliferative fibrous growths resulting from excessive tissue response to skin trauma...
  56. pmc Rubinstein-taybi syndrome: a case report
    A P Münevveroglu
    Department of Pedodontics, Faculty of Dentistry, Istanbul Medipol University, Fatih, 34093 Istanbul, Turkey
    Case Rep Dent 2012:483867. 2012
    ..Since the patient was mentally retarded, the dental treatment was done under GA. The treatment plan and dental management of this patient are discussed in this case report...
  57. pmc Chromosomal 16p microdeletion in Rubinstein-Taybi syndrome detected by oligonucleotide-based array comparative genomic hybridization: a case report
    Md A Mohd Fadley
    Unit of Hematology, Cancer Research Center, Institute for Medical Research, 50588 Kuala Lumpur, Malaysia
    J Med Case Rep 6:30. 2012
    ..abstract:..
  58. ncbi Three new cases with a mosaicism involving a normal cell line and a cryptic unbalanced autosomal reciprocal translocation
    Antoinet C J Gijsbers
    Center for Human and Clinical Genetics, Leiden University Medical Center LUMC, Leiden, The Netherlands
    Eur J Med Genet 54:e409-12. 2011
    ..Furthermore, we demonstrate that high-resolution whole-genome SNP array is a powerful tool to reveal cryptic unbalanced translocations and mosaicisms, including the more rare cases...
  59. ncbi Intellectual disability, unusual facial morphology and hand anomalies in sibs
    Sérgio B Sousa
    Servico de Genetica Medica, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal Clinical and Molecular Genetics Unit, UCL Institute of Child Health, London, UK
    Am J Med Genet A 161:2401-6. 2013
    ..2013 Wiley Periodicals, Inc. ..
  60. ncbi Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP
    F Petrij
    Department of Human Genetics, Leiden University, Sylvius Laboratories, The Netherlands
    Nature 376:348-51. 1995
    ..Because the patients are heterozygous for the mutations, we propose that the loss of one functional copy of the CBP gene underlies the developmental abnormalities in RTS and possibly the propensity for malignancy...
  61. ncbi Over 900 oocyte cryopreservation babies born with no apparent increase in congenital anomalies
    N Noyes
    Department of Obstetrics and Gynecology, NYU Fertility Center, NYU School of Medicine, New York 10016, USA
    Reprod Biomed Online 18:769-76. 2009
    ..A registry would help to assure the safest, most expeditious development of this technology...
  62. ncbi [CREBBP gene mutation in two boys with Rubinstein-Taybi syndrome]
    Jiangwei Zhang
    Department of Pediatrics, Peking Union Medical College Hospital and Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing 100730, China
    Zhonghua Er Ke Za Zhi 52:673-7. 2014
    ..To investigate the clinical and genetic features of 2 patients with Rubinstein-Taybi syndrome...
  63. ncbi Epigenetic mechanisms in neurological diseases: genes, syndromes, and therapies
    Rocio G Urdinguio
    Cancer Epigenetics and Biology Program, Bellvitge Biomedical Research Institute, Catalonia, Spain
    Lancet Neurol 8:1056-72. 2009
    ..In this Review, we describe epigenetic changes present in neurological diseases and discuss the therapeutic potential of epigenetic drugs, such as histone deacetylase inhibitors...
  64. ncbi Rubinstein-Taybi syndrome and CREBBP c.201 202delTA mutation: a case presenting with varicella meningoencephalitis
    H Caksen
    Department of Pediatrics, Yuzuncu Yil University, Faculty of Medicine, Van, Turkey
    Genet Couns 20:255-60. 2009
    ..201 202delT. The mutation has not been described previously but it predicts a protein truncation, and truncating CREBBP mutations are typical causes of RTS...
  65. ncbi Oral and dental manifestations in Rubinstein-Taybi syndrome: report of a rare case
    Madiraju Gunashekhar
    Prim Dent Care 19:35-8. 2012
    ..This case report describes the oral and dentofacial findings of Rubinstein-Taybi syndrome affecting a 13-year-old Indian female, including the uncommon presence of talon cusps and an unerupted supernumerary tooth...
  66. ncbi The transcriptional coactivator and acetyltransferase p300 in fibroblast biology and fibrosis
    Asish K Ghosh
    Feinberg School of Medicine, Northwestern University, Division of Rheumatology, Chicago, Illinois 60611, USA
    J Cell Physiol 213:663-71. 2007
    ....
  67. ncbi Periodontal disease in a Rubinstein-Taybi syndrome patient: case report
    N M Freitas
    Department of Periodontology, Dental School, University of Sao Paulo, Sao Paulo, Brazil
    Int J Paediatr Dent 16:292-6. 2006
    ....
  68. ncbi Evaluation of the immune humoral response of Brazilian patients with Rubinstein-Taybi syndrome
    L C Torres
    Departamento de Imunologia, Instituto de Ciencias Biomedicas, Universidade de Sao Paulo, SP, Brasil
    Braz J Med Biol Res 43:1215-24. 2010
    ..The CREBBP/p300 family gene is extremely important for B-cell regulation, and RTS may represent an interesting human model for studying the molecular mechanisms involved in B-cell development...
  69. ncbi Rubinstein-Taybi syndrome (RTS) with postaxial polydactyly of the foot: 4-year follow-up until improvement of dysbasia
    Gan Muneuchi
    Department of Plastic and Reconstructive Surgery, Kagawa University, Kagawa 761 0793, Japan
    Congenit Anom (Kyoto) 45:65-6. 2005
    ..Osteoplasty-combined surgery, which was ideal for anatomical reconstruction, was performed on the patient at 2 years and 11 months of age. A 4-year follow-up period was required until there was an improvement of dysbasia...
  70. ncbi Truncated CBP protein leads to classical Rubinstein-Taybi syndrome phenotypes in mice: implications for a dominant-negative mechanism
    Y Oike
    Department of Developmental Genetics, Institute of Molecular Embryology and Genetics, Kumamoto University School of Medicine, Kuhonji 4 24 1, Kumamoto 862 0976, Japan
    Hum Mol Genet 8:387-96. 1999
    ..These results implicate a crucial role for CBP in mammalian LTM. Our CBP +/- mice would be an excellent model for the study of the role of CBP in development and memory storage mechanisms...
  71. ncbi [Inter- and intrafamilial expression of cleidocranial dysostosis]
    I Golan
    University of Regensburg, Department of Orthodontics, Germany
    Orthod Fr 74:7-13. 2003
    ..The results of our craniofacial examination are in agreement with the numerous descriptions in the literature. This study accents the difficulty in establishing a clinical based diagnosis due to the wide variability...
  72. ncbi Rubinstein-Taybi syndrome medical guidelines
    Susan Wiley
    Children s Hospital Medical Center, Division of Developmental Disabilities, 3333 Burnet Ave, Cincinnati, Ohio 45229, USA
    Am J Med Genet A 119:101-10. 2003
    ..This is a first attempt at medical guidelines for individuals with RTS in the United States. On-going research is needed in many areas to guide decisions in medical care and allow for refinement of these medical guidelines...
  73. ncbi Chromatin acetylation, memory, and LTP are impaired in CBP+/- mice: a model for the cognitive deficit in Rubinstein-Taybi syndrome and its amelioration
    Juan M Alarcon
    Center for Neurobiology and Behavior, College of Physicians and Surgeons, Columbia University, 1051 Riverside Drive, New York, NY 10032, USA
    Neuron 42:947-59. 2004
    ....
  74. ncbi Gonadal sex cord stromal tumor in a patient with Rubinstein-Taybi syndrome
    Kenji Kurosawa
    Department of Pediatric, Tokyo Metropolitan Kita Medical Rehabilitation Center for the Handicapped, Tokyo, Japan
    Pediatr Int 44:330-2. 2002
  75. ncbi [Rubinstein-Taybi syndrome]
    Slobodanka Grkovic
    Srp Arh Celok Lek 132:109-10. 2004
    ..The child had all characteristic clinical features. In further follow-up period, corrective surgery and control of his psychomotor development are being planned...
  76. ncbi Premature thelarche in Rubinstein-Taybi syndrome
    Kenji Kurosawa
    Am J Med Genet 109:72-3. 2002
  77. ncbi The versatile functions of the transcriptional coactivators p300 and CBP and their roles in disease
    R Janknecht
    Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN 55905, USA
    Histol Histopathol 17:657-68. 2002
    ..Approaches to modulate p300/CBP function may be instrumental in the development of novel therapies directed against viral infections, cancer and neurodegenerative diseases...
  78. ncbi Drosophila CBP is a co-activator of cubitus interruptus in hedgehog signalling
    H Akimaru
    Laboratory of Molecular Genetics, Tsukuba Life Science Center, The Institute of Physical and Chemical Research RIKEN, Ibaraki, Japan
    Nature 386:735-8. 1997
    ..Here we show that Drosophila CBP (dCBP) functions as a coactivator of Ci, suggesting that the dCBP-Ci interaction may shed light on the contribution of CBP to pattern formation in mammals...
  79. ncbi Rubinstein-Taybi syndrome (broad thumb-hallux syndrome)
    Sherry H Hsiung
    Ronald O Perelman Department of Dermatology, New York University, USA
    Dermatol Online J 10:2. 2004
    ..The syndrome is sporadic in nature and has been linked to microdeletion at 16p13.3 encoding CREB-binding protein gene (CREBBP)...
  80. ncbi What's right with my mouse model? New insights into the molecular and cellular basis of cognition from mouse models of Rubinstein-Taybi Syndrome
    Sheena A Josselyn
    Learn Mem 12:80-3. 2005
  81. ncbi p300/CBP and cancer
    Narayanan Gopalakrishna Iyer
    Cancer Genomics Program, Department of Oncology, University of Cambridge, Hutchison MRC Research Centre, Cambridge CB2 2XZ, UK
    Oncogene 23:4225-31. 2004
    ..The involvement of these proteins in critical tumorigenic pathways (including TGF-beta, p53 and Rb) provides a mechanistic route as to how their inactivation could result in cancer...
  82. ncbi Anaesthesia in an adult with Rubenstein-Taybi syndrome using the ProSeal laryngeal mask airway
    S J Twigg
    Department of Anaesthesia, Royal United Hospital, Combe Park, Bath BA1 2NG, UK
    Br J Anaesth 89:786-7. 2002
    ..A ProSeal laryngeal mask airway was used to ventilate the patient for eye surgery...
  83. ncbi Variation in microdeletions of the cyclic AMP-responsive element-binding protein gene at chromosome band 16p13.3 in the Rubinstein-Taybi syndrome
    R I Blough
    Children s Hospital Research Foundation, Division of Human Genetics, Cincinnati, OH 45229 1933, USA
    Am J Med Genet 90:29-34. 2000
    ..No phenotypic differences between partial deletion, complete deletion, and nondeletion patients were observed, supporting a haploinsufficiency model for RSTS...
  84. ncbi The bilobed flap: a new application in the reconstruction of congenital thumb deviation
    J Cerqueiro Mosquera
    Department of Plastic Surgery, Great Ormond Street Hospital for Sick Children, London, UK
    J Hand Surg Br 25:262-5. 2000
    ....
  85. ncbi Syndromic features and mild cognitive impairment in mice with genetic reduction on p300 activity: Differential contribution of p300 and CBP to Rubinstein-Taybi syndrome etiology
    Jose Viosca
    Instituto de Neurociencias de Alicante Universidad Miguel Hernández Consejo Superior de Investigaciones Científicas, Campus de Sant Joan, Apt 18, Sant Joan d Alacant, 03550 Alicante, Spain
    Neurobiol Dis 37:186-94. 2010
    ....
  86. ncbi Spectrum of CREBBP gene dosage anomalies in Rubinstein-Taybi syndrome patients
    Marianne Stef
    Laboratoire de Génétique Humaine, Développement et Cancer EA 3669, Universite Victor Segalen Bordeaux 2, Bordeaux, France
    Eur J Hum Genet 15:843-7. 2007
    ..No correlation was found between the type of deletion and the patients' phenotype. All patients had typical RTS, and there was no particular severity associated with certain alterations...
  87. pmc In sickness and in health: the role of methyl-CpG binding protein 2 in the central nervous system
    Sol Díaz de León-Guerrero
    Laboratorio de Neuroinmunobiología, Departamento de Medicina Molecular y Bioprocesos, Instituto de Biotecnologia, Universidad Nacional Autonoma de Mexico, A P 510 3, Cuernavaca, Morelos 62271, Mexico
    Eur J Neurosci 33:1563-74. 2011
    ....
  88. ncbi Somatic and germ-line mosaicism in Rubinstein-Taybi syndrome
    Pei Wen Chiang
    Department of Pediatrics, UC Denver DNA Diagnostic Laboratory, UC Denver School of Medicine, Aurora, Colorado, USA
    Am J Med Genet A 149:1463-7. 2009
    ..Additional family studies are required to determine how common somatic and/or gonadal mosaicism is present in RSTS patients...
  89. pmc Epigenetic targets of HDAC inhibition in neurodegenerative and psychiatric disorders
    Ted Abel
    Department of Biology, University of Pennsylvania, 204G Lynch Laboratories, 433 South University Avenue, Philadelphia, PA 19104 6018, USA
    Curr Opin Pharmacol 8:57-64. 2008
    ..These agents may prove useful in the clinic for the treatment of the cognitive impairments that are central elements of many neurodevelopmental, neurological, and psychiatric disorders...
  90. ncbi Genotype-phenotype correlations in Rubinstein-Taybi syndrome
    E K Schorry
    Division of Human Genetics, Cincinnati Children s Hospital Medical Center, Cincinnati, Ohio 45229, USA
    Am J Med Genet A 146:2512-9. 2008
    ..Similarity in phenotype between the groups implies that the several genes involved in causing RTS likely have effects through the same pathway...
  91. ncbi Further case of Rubinstein-Taybi syndrome due to a deletion in EP300
    Patricia Foley
    Our Lady s Childrens Hospital, National Centre for Medical Genetics, Dublin, Crumlin, Ireland
    Am J Med Genet A 149:997-1000. 2009
    ..The mother suffered from pre-eclampsia and HELLP syndrome in the pregnancy. She subsequently developed a mullerian tumor of her cervix 6 years after the birth of her son...
  92. ncbi Corneal keloid: clinical, ultrasonographic, and ultrastructural characteristics
    Tristan Bourcier
    Quinze Vingts National Center of Ophthalmology, 28 rue de Charenton, 75012 Paris, France
    J Cataract Refract Surg 30:921-4. 2004
    ..They have also been described in children with Lowe's syndrome, Rubinstein-Taybi syndrome, and other ocular developmental disorders...
  93. pmc A genetic screen identifies putative targets and binding partners of CREB-binding protein in the developing Drosophila eye
    Jason Anderson
    Department of Biology, Indiana University, 1001 E 3rd Street, Jordan Hall A318, Bloomington, IN 47401, USA
    Genetics 171:1655-72. 2005
    ..Of particular interest is the identification that the CREB transcription factor appears to function with CBP at multiple stages of retinal development...
  94. ncbi The PHD finger of p300 Influences Its Ability to Acetylate Histone and Non-Histone Targets
    Johannes G M Rack
    Department of Molecular Biology, University of Bergen, Postbox 7803, 5020 Bergen, Norway Sir William Dunn School of Pathology, University of Oxford, South Parks Road, Oxford OX1 3RE, United Kingdom
    J Mol Biol 426:3960-72. 2014
    ..Hence, the PHD finger appears to negatively regulate self-acetylation. Furthermore, our data suggest that the PHD finger has a role in the recruitment of p300 to chromatin. ..
  95. ncbi To learn better, keep the HAT on
    Kelsey C Martin
    Department of Psychiatry and Beiobehavioral Sciences, Neuropsychiatric Institute, University of California, Los Angeles 90095, USA
    Neuron 42:879-81. 2004
    ..and Korzus et al. use two different mouse models of Rubinstein-Taybi syndrome to elucidate a role for the histone acetyltransferase activity of CREB binding protein (CBP) in long-term memory and plasticity...
  96. ncbi [Hedgehog signaling pathway and human disorders]
    Katsunori Fujii
    Department of Pediatrics, Chiba University Graduate School of Medicine, Chiba
    No To Hattatsu 41:247-52. 2009
    ..Thus, understanding of these molecular relationships may facilitate the development of new therapies and treatments for diseases caused by hedgehog signaling disorders...
  97. ncbi Cryptic microdeletion of the CREBBP gene from t(1;16) (p36.2;p13.3) as a novel genetic defect causing Rubinstein-Taybi syndrome
    Suk Ran Kim
    Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, 50 Irwon dong, Gangnam Gu, Seoul, 135 710, Korea phone 82 2 3410 2710, fax 82 2 3410 2719 e mail
    Ann Clin Lab Sci 43:450-6. 2013
    ..2 and 16p13.3. To the best of our knowledge, this is the first report of characterization of the genomic dosage imbalances in RTS by SNP-array...
  98. ncbi Rubinstein-Taybi syndrome predisposing to non-WNT, non-SHH, group 3 medulloblastoma
    Franck Bourdeaut
    INSERMU830, Laboratoire de Génétique et Biologie des Cancers, Institut Curie, Paris, France Département de pédiatrie, Institut Curie, Paris, France
    Pediatr Blood Cancer 61:383-6. 2014
    ..Biological profilings demonstrate that this tumor belongs to the group 3. RTS may therefore be the first predisposition syndrome identified for non-WNT/non-SHH MB...
  99. ncbi Exome sequencing identifies a novel EP300 frame shift mutation in a patient with features that overlap Cornelia de Lange syndrome
    Susan A Woods
    Department of Genetics, Akron Children s Hospital, Akron, Ohio
    Am J Med Genet A 164:251-8. 2014
    ..As whole exome sequencing becomes more widely utilized, the diverse phenotypes associated with EP300 mutations should be better understood. In the meantime, testing for EP300 mutations in those with features of CdLS may be warranted...
  100. ncbi Germline mosaicism in Rubinstein-Taybi syndrome
    Mariam Tajir
    Centre de Génomique Humaine, Faculte de Medecine et de Pharmacie, université Mohamed V Souissi, Rabat, Maroc
    Gene 518:476-8. 2013
    ..We discuss the hypothesis of germinal mosaicism. This concept is very important because it complicates genetic counseling of this family who has a risk of recurrence of the mutation in subsequent pregnancies...
  101. ncbi Multiplex ligation-dependent probe amplification detection of an unknown large deletion of the CREB-binding protein gene in a patient with Rubinstein-Taybi syndrome
    F Cali
    Laboratory of Molecular Genetics, IRCCS Associazione Oasi Maria SS, Troina, Italy
    Genet Mol Res 12:2809-15. 2013
    ....

Research Grants14

  1. Dynamics of nucleosome assembly/disassembly affected by chromatin modifications
    Tae Hee Lee; Fiscal Year: 2013
    ..Results from the project will provide a novel and unique basis for the development of diagnoses and treatments of the diseases and disorders originated from abnormal DNA methylation and defective histone acetylation. ..
  2. Exploring Kabuki Syndrome as a Treatable Cause of Intellectual Disability
    Hans Tomas Bjornsson; Fiscal Year: 2013
    ..We intend to use these alleles for the development of assays for high-throughput discovery of therapeutic agents using both patient cells and/or mouse embryonic stem cells from our mice. ..
  3. Modeling Gene Regulation Essential for Long-Term Plasticity
    John H Byrne; Fiscal Year: 2013
    ..This project will advance the understanding of basic memory mechanisms, which will lead to better learning paradigms and help identify molecular targets for pharmacological treatments of brain disorders. ..
  4. SRCAP Regulation of CREB and GR-mediated Transcription
    John Chrivia; Fiscal Year: 2005
    ..We propose to determine whether this repression of CREB-mediated transcription occurs through formation of a DBX-SRCAP complex. ..
  5. Mechanisms of Steroid Hormone Action in Brain
    MARC TETEL; Fiscal Year: 2001
    ..Studying how these coactivators function in vivo, and moreover in brain, will greatly increase our limited knowledge of the role of these coactivators in human disorders. ..
  6. Analysis of craniofacial transcription factor and coactivator functional networks
    Paul Brindle; Fiscal Year: 2009
    ..Such knowledge will lead to a new view of this complicated developmental process, and possibly to improved diagnosis and treatment of skull and facial anomalies. ..
  7. TRANSCRIPTIONAL COACTIVATORS IN HEMATOPOIESIS
    Paul Brindle; Fiscal Year: 2005
    ....
  8. CONTROL OF P53 TUMOR SUPPRESSOR BY CBP/P300
    Tso Pang Yao; Fiscal Year: 2005
    ..Mono-allelic loss of CBP in humans (i.e. Rubinstein Taybi syndrome) and in mice leads to an increased risk of cancers, supporting a specific role for CBP in oncogenesis...
  9. In Vivo Analysis of a Transcriptional Coactivator Domain
    Paul Brindle; Fiscal Year: 2004
    ..KIX mutant mice will also be valuable models for studying the roles of these co-activators in physiological processes relevant to human health such as memory, immunity, reproduction, growth, aging, and metabolism. ..
  10. Regulation of Ras-signaling pathways by SynGAP
    HOLLY CARLISLE; Fiscal Year: 2006
    ..Understanding how Ras signaling pathways are regulated in adult neurons may further our understanding of the molecular underpinnings of these disorders. ..
  11. Molecular Mechanisms of Long-Term Memory Storage
    EDWIN TED G ABEL; Fiscal Year: 2010
    ..With the combination of genetic, biochemical, molecular, and pharmacological studies outlined in this grant proposal, we hope to define the role of CBP and histone acetylation in memory storage and synaptic plasticity. ..
  12. SLEEP MEMORY: A MOLECULAR AND GENETIC ANALYSIS
    EDWIN ABEL; Fiscal Year: 2002
    ..abstract_text> ..
  13. STRUCTURAL AND FUNCTIONAL ANALYSES OF NEURONAL PTPS
    Paul Lombroso; Fiscal Year: 2008
    ..STEP knock-out mice will also be characterized. The proposed investigations will be done in the supportive environment of the Child Study Center with its commitment to cliniclaly informed basic science research. ..
  14. The PTP, STEP, Regulates Amphetamine Actions
    Paul Lombroso; Fiscal Year: 2008
    ..We show preliminary feasibility data on this approach. A complementary set of experiments will study the STEP knock-out mouse that we predict is hypersensitive to stimulant treatment. ..