mandibulofacial dysostosis

Summary

Summary: A hereditary disorder occurring in two forms: the complete form (Franceschetti's syndrome) is characterized by antimongoloid slant of the palpebral fissures, coloboma of the lower lid, micrognathia and hypoplasia of the zygomatic arches, and microtia. It is transmitted as an autosomal trait. The incomplete form (Treacher Collins syndrome) is characterized by the same anomalies in less pronounced degree. It occurs sporadically, but an autosomal dominant mode of transmission is suspected. (Dorland, 27th ed)

Top Publications

  1. ncbi Prevention of the neurocristopathy Treacher Collins syndrome through inhibition of p53 function
    Natalie C Jones
    Stowers Institute for Medical Research, 1000 East 50th Street, Kansas City, Missouri 64110, USA
    Nat Med 14:125-33. 2008
  2. ncbi Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation
    Ozge Altug Teber
    Institut fur Humangenetik, Universitatsklinikum, Essen, Germany
    Eur J Hum Genet 12:879-90. 2004
  3. ncbi Screening of TCOF1 in patients from different populations: confirmation of mutational hot spots and identification of a novel missense mutation that suggests an important functional domain in the protein treacle
    A Splendore
    J Med Genet 39:493-5. 2002
  4. ncbi Another face of the Treacher Collins syndrome (TCOF1) gene: identification of additional exons
    Rolando B So
    Department of Pharmacology, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA
    Gene 328:49-57. 2004
  5. ncbi TCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins Syndrome throughout its coding region
    C A Wise
    Department of Otorhinolaryngology, University of Texas Southwestern Medical Center, Dallas 75235, USA
    Proc Natl Acad Sci U S A 94:3110-5. 1997
  6. ncbi Mutation testing in Treacher Collins Syndrome
    P E Ellis
    Orthodontic Department, Charles Clifford Dental Hospital, Sheffield, UK
    J Orthod 29:293-7; discussion 278. 2002
  7. ncbi Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome
    Johannes G Dauwerse
    Center for Human and Clinical Genetics, Leiden University Medical Center LUMC, Leiden, The Netherlands
    Nat Genet 43:20-2. 2011
  8. ncbi The Treacher Collins syndrome (TCOF1) gene product, treacle, is targeted to the nucleolus by signals in its C-terminus
    S T Winokur
    Department of Biological Chemistry, University of California, Irvine, CA 92697, USA
    Hum Mol Genet 7:1947-52. 1998
  9. ncbi Duodenal and biliary atresia associated with facial, thyroid and auditory apparatus abnormalities: a new mandibulofacial dysostosis syndrome?
    Gustavo H B Maegawa
    The Hospital for Sick Children, Department of Pediatrics, Divisions of Clinical and Metabolic Genetics, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada
    Clin Dysmorphol 15:191-6. 2006
  10. ncbi Increased levels of apoptosis in the prefusion neural folds underlie the craniofacial disorder, Treacher Collins syndrome
    J Dixon
    School of Biological Sciences and Department of Dental Medicine and Surgery, University of Manchester, UK
    Hum Mol Genet 9:1473-80. 2000

Research Grants

  1. Software for the creation and quality control of genome annotations
    MARK DOUGLAS YANDELL; Fiscal Year: 2010
  2. Craniofacial Development and Disease
    Paul A Trainor; Fiscal Year: 2010
  3. Regulation of Treacher Collins Syndrome TCOF1 gene
    KATHRYN SHOWS; Fiscal Year: 2007
  4. Intrinsic and extrinsic regulation of cranial mesoderm
    Paul Trainor; Fiscal Year: 2007
  5. Osseous Abnormalities in Neurofibromatosis Type 1
    David Stevenson; Fiscal Year: 2007
  6. Whole genome screen for novel regulators of tissue homeostasis and regeneration
    MARK DOUGLAS contact YANDELL; Fiscal Year: 2010

Detail Information

Publications122 found, 100 shown here

  1. ncbi Prevention of the neurocristopathy Treacher Collins syndrome through inhibition of p53 function
    Natalie C Jones
    Stowers Institute for Medical Research, 1000 East 50th Street, Kansas City, Missouri 64110, USA
    Nat Med 14:125-33. 2008
    ....
  2. ncbi Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation
    Ozge Altug Teber
    Institut fur Humangenetik, Universitatsklinikum, Essen, Germany
    Eur J Hum Genet 12:879-90. 2004
    ..The difficulties in genetic counselling, especially diagnosis of family members with a mild phenotype, are described...
  3. ncbi Screening of TCOF1 in patients from different populations: confirmation of mutational hot spots and identification of a novel missense mutation that suggests an important functional domain in the protein treacle
    A Splendore
    J Med Genet 39:493-5. 2002
  4. ncbi Another face of the Treacher Collins syndrome (TCOF1) gene: identification of additional exons
    Rolando B So
    Department of Pharmacology, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA
    Gene 328:49-57. 2004
    ..The discovery of exons 6A and 16A is relevant to mutational analysis of the TCOF1 gene in TCS patients, and to functional analysis of its gene product...
  5. ncbi TCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins Syndrome throughout its coding region
    C A Wise
    Department of Otorhinolaryngology, University of Texas Southwestern Medical Center, Dallas 75235, USA
    Proc Natl Acad Sci U S A 94:3110-5. 1997
    Treacher Collins Syndrome (TCS) is the most common of the human mandibulofacial dysostosis disorders. Recently, a partial TCOF1 cDNA was identified and shown to contain mutations in TCS families...
  6. ncbi Mutation testing in Treacher Collins Syndrome
    P E Ellis
    Orthodontic Department, Charles Clifford Dental Hospital, Sheffield, UK
    J Orthod 29:293-7; discussion 278. 2002
    ..To report on a study where 97 subjects were screened for mutations in the Treacher Collins syndrome (TCS) gene TCOF1...
  7. ncbi Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome
    Johannes G Dauwerse
    Center for Human and Clinical Genetics, Leiden University Medical Center LUMC, Leiden, The Netherlands
    Nat Genet 43:20-2. 2011
    ..These findings identify two additional genes involved in TCS, confirm the genetic heterogeneity of TCS and support the hypothesis that TCS is a ribosomopathy...
  8. ncbi The Treacher Collins syndrome (TCOF1) gene product, treacle, is targeted to the nucleolus by signals in its C-terminus
    S T Winokur
    Department of Biological Chemistry, University of California, Irvine, CA 92697, USA
    Hum Mol Genet 7:1947-52. 1998
    ..This study provides the first direct analysis of treacle and demonstrates that the protein involved in TCOF1 is a nucleolar protein...
  9. ncbi Duodenal and biliary atresia associated with facial, thyroid and auditory apparatus abnormalities: a new mandibulofacial dysostosis syndrome?
    Gustavo H B Maegawa
    The Hospital for Sick Children, Department of Pediatrics, Divisions of Clinical and Metabolic Genetics, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada
    Clin Dysmorphol 15:191-6. 2006
    ..gestation with multiple abnormalities including dysmorphic and coarse facial features with features of mandibulofacial dysostosis that include bilateral microtia with the absence of external auditory meati and Mondini dysplasia as ..
  10. ncbi Increased levels of apoptosis in the prefusion neural folds underlie the craniofacial disorder, Treacher Collins syndrome
    J Dixon
    School of Biological Sciences and Department of Dental Medicine and Surgery, University of Manchester, UK
    Hum Mol Genet 9:1473-80. 2000
    ..Our results demonstrate that TCS arises from haploinsufficiency of a protein that plays a crucial role in craniofacial development and indicate that correct dosage of treacle is essential for survival of cephalic neural crest cells...
  11. ncbi Macular degeneration associated with a novel Treacher Collins tcof1 mutation and evaluation of this mutation in age related macular degeneration
    S V Goverdhan
    Br J Ophthalmol 89:1063-4. 2005
  12. ncbi Long-term outcome study of bilateral mandibular distraction: a comparison of Treacher Collins and Nager syndromes to other types of micrognathia
    Eric J Stelnicki
    Institute of Reconstructive Plastic Surgery, New York University Medical Center, New York, NY 10016, USA
    Plast Reconstr Surg 109:1819-25; discussion 1826-7. 2002
    ....
  13. ncbi Identification of mutations in TCOF1: use of molecular analysis in the pre- and postnatal diagnosis of Treacher Collins syndrome
    Jill Dixon
    School of Biological Sciences and Department of Dental Medicine and Surgery, University of Manchester, Manchester, England
    Am J Med Genet A 127:244-8. 2004
    ..In the current study, we describe how molecular techniques have been used to facilitate pre- and postnatal disease diagnoses in 13 TCS families...
  14. ncbi Parental origin of mutations in sporadic cases of Treacher Collins syndrome
    Alessandra Splendore
    Centro de Estudos do Genoma Humano, Departamento de Biologia, , , , CEP 05508-900, Cidade Universitaria, , SP, Brazil
    Eur J Hum Genet 11:718-22. 2003
    ..A discussion on the parental origin of mutations and paternal age effect in other diseases is included...
  15. ncbi High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes
    A Splendore
    Centro de Estudos do Genoma Humano, Instituto de Biociencias, Universidade de Sao Paulo, Sao Paulo, Brazil
    Hum Mutat 16:315-22. 2000
    ..Furthermore, our data confirm the absence of genotype-phenotype correlation and reinforce that the apparent anticipation often observed in TCS families is due to ascertainment bias...
  16. ncbi TCOF1 mutation database: novel mutation in the alternatively spliced exon 6A and update in mutation nomenclature
    Alessandra Splendore
    Instituto Nacional de Cancer, Divisão de Genética, Rio de Janeiro, Brazil
    Hum Mutat 25:429-34. 2005
    ....
  17. ncbi The mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations that create a premature-termination codon
    S J Edwards
    School of Biological Sciences and Department of Dental Medicine, University of Manchester, United Kingdom
    Am J Hum Genet 60:515-24. 1997
    ..This mutational spectrum supports the hypothesis that TCS results from haploinsufficiency...
  18. ncbi A functional SNP in the promoter region of TCOF1 is associated with reduced gene expression and YY1 DNA-protein interaction
    Cibele Masotti
    Instituto de Biociencias, Universidade de Sao Paulo, Departamento de Biologia, Rua do Matao, 277 Sala 200, 05508 900 São Paulo SP, Brazil
    Gene 359:44-52. 2005
    ..This promoter variant represents a candidate allele to explain the clinical variability in patients bearing TCS...
  19. ncbi [Musculoskeletal connections. Study of two cases of oto-mandibular dysplasia]
    E Falque
    Orthod Fr 76:229-38. 2005
    ..The observations in tomodensitometry of musculo-skeletal connections in otomandibular dysostosis make it possible qualitatively to observe the development of the muscles and their functions...
  20. ncbi Genomewide analysis of gene expression associated with Tcof1 in mouse neuroblastoma
    Michael Mogass
    Department of Human Genetics, Virginia Commonwealth University Medical Center, P O Box 980033, Richmond, VA 23298 0033, USA
    Biochem Biophys Res Commun 325:124-32. 2004
    ..Thus, expression of Tcof1 and treacle synthesis play an important role in the proliferation of neuroblastoma cells and we have identified genes that may be important in this pathway...
  21. ncbi Treacher Collins syndrome
    Jill Dixon
    School of Dentistry, University of Manchester, Manchester, UK
    Orthod Craniofac Res 10:88-95. 2007
    ..These combined advances have already impacted on clinical practice and provide invaluable resources for the continued dissection of the developmental basis of TCS...
  22. ncbi Robin sequence: a retrospective review of 115 patients
    Adele Karen Evans
    Massachusetts Eye and Ear Infirmary, Department of Otolaryngology, 243 Charles Street, Boston, MA 02114, USA
    Int J Pediatr Otorhinolaryngol 70:973-80. 2006
    ....
  23. ncbi Novel mutation in the 5' splice site of exon 4 of the TCOF1 gene in the patient with Treacher Collins syndrome
    Bozena Marszalek
    Department of Biochemistry and Molecular Biology, University of Medical Sciences, 6 Swiecickiego St, 60-781 Pozna, Poland
    Am J Med Genet A 123:169-71. 2003
    ..Real-time PCR analysis showed different melting temperatures of the amplified fragment containing normal allele and that harboring the 18 bp deletion, thus providing a rapid screening assay for this and other deletions of the TCOF1 gene...
  24. ncbi Cloning and functional characterization of the Xenopus orthologue of the Treacher Collins syndrome (TCOF1) gene product
    Bianca Gonzales
    Department of Pharmacology, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030 USA
    Gene 359:73-80. 2005
    ..laevis oocytes resulted in inhibition of rDNA gene transcription. The results suggest evolutionary conservation of the function of treacle in ribosomal RNA biogenesis in higher eukaryotes...
  25. ncbi Proteomic analysis of human Nop56p-associated pre-ribosomal ribonucleoprotein complexes. Possible link between Nop56p and the nucleolar protein treacle responsible for Treacher Collins syndrome
    Toshiya Hayano
    Department of Applied Biological Science, Tokyo University of Agriculture and Technology, 3 5 8 Saiwai cho, Fuchu, Tokyo 183 8509
    J Biol Chem 278:34309-19. 2003
    ....
  26. ncbi Dentigerous cyst after distraction osteogenesis of the mandible
    Dylan John Murray
    The Centre for Craniofacial Care and Research, Hospital for Sick Children, Toronto, Ontario, Canada
    J Craniofac Surg 18:1349-52. 2007
    ..The possible histogenic mechanisms and the management are outlined. Understanding the causes of dentigerous cysts as well as the anatomy of the neonatal mandible may help avoid such a complication in the future...
  27. ncbi Analysis of skeletal movements in mandibular distraction osteogenesis
    Krishna Yeshwant
    Department of Oral and Maxillofacial Surgery, Massachusetts General Hospital, Boston 02114, USA
    J Oral Maxillofac Surg 63:335-40. 2005
    ....
  28. ncbi Mosaicism of a TCOF1 mutation in an individual clinically unaffected with Treacher Collins syndrome
    Brenda A Shoo
    Department of Pediatrics, Institute of Genetic Medicine, Center for Craniofacial Development and Disorders, The Johns Hopkins University, Baltimore, Maryland 21287 3914, USA
    Am J Med Genet A 126:84-8. 2004
    Treacher Collins syndrome (TCS) or mandibulofacial dysostosis is an autosomal dominant disorder of craniofacial development with 60% of its cases arising de novo...
  29. ncbi RNAi knockdown of Nopp140 induces Minute-like phenotypes in Drosophila
    Zhengfang Cui
    Department of Biological Sciences, Louisiana State University, Baton Rouge, LA 70803, USA
    Mol Biol Cell 18:2179-91. 2007
    ..Similarly, overexpression of either isoform caused embryonic and larval lethality, thus indicating proper expression of Nopp140 is critical for normal development...
  30. ncbi Congenital mandibular hypoplasia: analysis and classification
    Davinder J Singh
    Division of Plastic Surgery, University of Pennsylvania School of Medicine, 3400 Spruce Street, Philadelphia, PA 19104, USA
    J Craniofac Surg 16:291-300. 2005
    ..Of these 266 patients, 148 presented with oculo-auriculo-vertebral (OAV) spectrum, 52 with mandibulofacial dysostosis, 31 with Pierre Robin sequence, and 17 with miscellaneous syndromes...
  31. ncbi Treacher Collins syndrome with a de Novo 5-bp deletion in the TCOF1 gene
    Pen Hua Su
    Institute of Medicine, Chung Shan Medical University, Chung Shan Medical University Hospital, Taichung, Taiwan
    J Formos Med Assoc 105:518-21. 2006
    ..A 5-bp deletion in exon 22 of the TCOF1 gene (3469del ACTCT) was found to cause a premature stop codon. This is the first report of TCOF1 gene mutation in the Taiwanese population...
  32. ncbi Mutational analysis of the TCOF1 gene in 11 Japanese patients with Treacher Collins Syndrome and mechanism of mutagenesis
    Katsumi Horiuchi
    Department of Plastic and Reconstructive Surgery, Hokkaido University Graduate School of Medicine, Sapporo, Japan
    Am J Med Genet A 134:363-7. 2005
    ..We have speculated about the molecular mechanisms of the mutations in most cases. Collectively, we have defined some of the characteristic molecular features commonly observed in TCS patients, irrespective of racial difference...
  33. ncbi Facial characteristics are not distinctive features for the acrofacial dysostosis syndrome type Kennedy-Teebi
    Mariken Ruiter
    Am J Med Genet A 135:344; author reply 345. 2005
  34. ncbi Invited discussion: Surgical treatment of Treacher Collins syndrome
    Jason J Miller
    Division of Plastic Surgery, Stanford University Medical Center, Stanford, CA, USA
    Ann Plast Surg 56:555-6. 2006
  35. ncbi Newly recognized autosomal recessive acrofacial dysostosis syndrome resembling Nager syndrome
    Shelley J Kennedy
    Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada
    Am J Med Genet A 129:73-6. 2004
    ..We postulate that the inheritance is autosomal recessive on the basis of similarly affected male and female sibs...
  36. ncbi Treacher Collins syndrome with craniosynostosis, choanal atresia, and esophageal regurgitation caused by a novel nonsense mutation in TCOF1
    Katsumi Horiuchi
    Department of Plastic and Reconstructive Surgery, Hokkaido University Graduate School of Medicine, Hokkaido, Japan
    Am J Med Genet A 128:173-5. 2004
    ..Our patient had the classic findings of TCS, but with documented craniosynostosis, choanal atresia, and esophageal regurgitation...
  37. ncbi Dental and facial bone abnormalities in pyknodysostosis: CT findings
    K W Fleming
    Department of Radiology, Boston University Medical Center, Boston, MA, USA
    AJNR Am J Neuroradiol 28:132-4. 2007
    ..Volume-rendered imaging better delineated the irregular dentition, with crowding and retention of deciduous teeth...
  38. ncbi The Rotterdam Palatal Distractor: introduction of the new bone-borne device and report of the pilot study
    M J Koudstaal
    Department of Oral and Maxillofacial Surgery, Craniofacial Center, Sophia Children s Hospital, Erasmus University Medical Center Rotterdam, Dr Molewaterplein 40, 3015 GD Rotterdam, The Netherlands
    Int J Oral Maxillofac Surg 35:31-5. 2006
    ..This new distractor is presented and the data of five acquired deformity and eight congenital deformity patients that were treated with this distractor are reported...
  39. ncbi Moulding of the generate to control open bite during mandibular distraction osteogenesis
    Timo Peltomaki
    Department of Oral Development and Orthodontics, Institute of Dentistry, University of Turku, Finland
    Eur J Orthod 24:639-45. 2002
    ..Intrusive mechanics may be incorporated into the orthodontic appliances to balance extrusive force by the moulding elastics...
  40. ncbi Awake tracheal intubation through the laryngeal mask in neonates with upper airway obstruction
    Takashi Asai
    Department of Anaesthesiology, Kansai Medical University, Moriguchi City, Osaka, Japan
    Paediatr Anaesth 18:77-80. 2008
    ....
  41. ncbi Detection of an appropriate kinase activity in branchial arches I and II that coincides with peak expression of the Treacher Collins syndrome gene product, treacle
    N C Jones
    Murdoch Institute, Royal Children s Hospital, Flemington Road, Parkville, Victoria 3052, Australia
    Hum Mol Genet 8:2239-45. 1999
    ..This activity coincides with the reported high expression of treacle in these tissues at early developmental stages and declines later in development...
  42. ncbi Mutations in the Treacher Collins syndrome gene lead to mislocalization of the nucleolar protein treacle
    K L Marsh
    School of Biological Sciences and Departments of Dental Medicine and Surgery, 3 239, Stopford Building, University of Manchester, Oxford Road, Manchester M13 9PT, UK
    Hum Mol Genet 7:1795-800. 1998
    ..TCS is, therefore, the first Mendelian disorder resulting from mutations which lead to aberrant expression of a nucleolar protein...
  43. ncbi Imaging the neonatal mandible for accurate distraction osteogenesis
    J T Katzen
    Institute of Reconstructive Plastic Surgery, New York University Medical Center, 560 1st Avenue, New York, NY 10016, USA
    J Craniofac Surg 12:26-30. 2001
    ..This curved, reformatted mandibular image provides accurate visualization of the mandible and mandibular teeth. This technique allows for precise pin placement and osteotomy in distraction osteogenesis...
  44. ncbi A new sequence motif linking lissencephaly, Treacher Collins and oral-facial-digital type 1 syndromes, microtubule dynamics and cell migration
    R D Emes
    MRC Functional Genetics Unit, Department of Human Anatomy and Genetics, University of Oxford, South Parks Road, Oxford OX1 3QX, UK
    Hum Mol Genet 10:2813-20. 2001
    ..Uncharacterized LisH motif-containing proteins represent candidates for other diseases associated with aberrant microtubule dynamics and defects of cell migration, nucleokinesis or chromosome segregation...
  45. ncbi Novel autosomal dominant mandibulofacial dysostosis with ptosis: clinical description and exclusion of TCOF1
    P Hedera
    Department of Pediatrics, Division of Medical Genetics, University of Michigan, MI, USA
    J Med Genet 39:484-8. 2002
    BACKGROUND: Treacher Collins syndrome (TCS), the most common type of mandibulofacial dysostosis (MFD), is genetically homogeneous...
  46. ncbi Effect of distraction osteogenesis of the mandible on upper airway volume and resistance in children with micrognathia
    Chad A Perlyn
    Cleft Palate and Craniofacial Deformities Institute, Division of Plastic Surgery, St. Louis Children's Hospital, St. Louis, MO 63110, USA
    Plast Reconstr Surg 109:1809-18. 2002
    ..The artificial rigidity of the stereolithographic "airway" compared with the elasticity of the human upper airway may account for the insensitivity of this model to smaller but clinically significant airway changes...
  47. ncbi Clinical features, treatment and genetic background of Treacher Collins syndrome
    Bozena Marszałek
    Department of Biochemistry and Molecular Biology, K Marcinkowski University of Medical Sciences, Poznan, Poland
    J Appl Genet 43:223-33. 2002
    ..Most of these mutations are insertions or deletions, which result in an introduction of a premature termination codon into the reading frame. Mutational spectra support the hypothesis that TCS results from haploinsufficiency of treacle...
  48. ncbi Characterization of the nucleolar gene product, treacle, in Treacher Collins syndrome
    C Isaac
    Department of Anatomy and Structural Biology, Albert Einstein College of Medicine, Bronx, New York 10461, USA
    Mol Biol Cell 11:3061-71. 2000
    ..Therefore, cells of TCS patients possess a mechanism to maintain wild-type levels of full-length treacle from a single allele...
  49. ncbi Radiological findings and dynamic aspects of stomatognathic structures in Treacher Collins syndrome: clinical case report
    Adriana de Oliveira Lira Ortega
    Department of Orthodontics and Pediatric Dentistry, School of Dentistry, Sao Paulo University, Brazil
    Cleft Palate Craniofac J 44:678-82. 2007
    ..Significant morphological and functional alterations were observed but without significant documented clinical consequences...
  50. ncbi Non-syndromal round window atresia: an autosomal dominant genetic disorder with variable penetrance?
    A Borrmann
    Department of Otolaryngology Head and Neck Surgery, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany
    Eur Arch Otorhinolaryngol 264:1103-8. 2007
    Round window atresia can be seen in association with syndromal anomalies such as mandibulofacial dysostosis, Mondini type anomalies or cretinism, or with extensive otosclerosis...
  51. ncbi Regulation of the mouse Treacher Collins syndrome homolog (Tcof1) promoter through differential repression of constitutive expression
    Kathryn H Shows
    Department of Human and Molecular Genetics, Virginia Commonwealth University School of Medicine, Richmond, Virginia 23298 0033, USA
    DNA Cell Biol 27:589-600. 2008
    Treacher Collins syndrome is an autosomal-dominant mandibulofacial dysostosis caused by haploinsufficiency of the TCOF1 gene product treacle...
  52. ncbi Mouse TCOF1 is expressed widely, has motifs conserved in nucleolar phosphoproteins, and maps to chromosome 18
    W A Paznekas
    Department of Pediatrics, Medicine, and Surgery, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287 3914, USA
    Biochem Biophys Res Commun 238:1-6. 1997
    Mutations in the human TCOF1 gene have been identified in patients with Treacher Collins Syndrome (Mandibulofacial Dysostosis), an autosomal dominant condition affecting the craniofacial region...
  53. ncbi [Diagnosis and logopedic rehabilitation in mandibulofacial dysostosis: a case report]
    G Valentino
    Sezione di Audiofonologia, A O di Avellino
    Acta Otorhinolaryngol Ital 16:136-9. 1996
    ..Treacher Collins-Franceschetti have a very good chance of being inserted into society furthermore improved by the absence lack of mental deficiency and by spontaneous improvement in physical appearance...
  54. ncbi Lethal acrofacial dysostosis, pre- and post-axial defects of the hands, and bilateral renal agenesis
    A W Bates
    Department of Histopathology and Morbid Anatomy, Institute of Pathology, The Royal London Hospital, UK
    Clin Dysmorphol 11:63-6. 2002
    We report a female fetus with a previously undescribed form of mandibulofacial dysostosis with mesomelic limb abnormalities, pre- and post-axial defects of the hands, bilateral renal agenesis, bicornuate uterus, and a single umbilical ..
  55. ncbi [Hemifacial microsomia. Embryological and clinical approach]
    J B Charrier
    Institut d embryologie cellulaire et moléculaire du CNRS et du Collège de France FRE 2160, 49 bis, avenue de la Belle Gabrielle, 94736 Nogent sur Marne, France
    Ann Chir Plast Esthet 46:385-99. 2001
    ..A clinical approach to hemifacial microsomia is proposed. Current pathogenetic hypotheses of hemifacial microsomia and also mandibulofacial dysostosis are reviewed.
  56. ncbi A new syndrome with growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate
    Maria Leine Guion-Almeida
    Clinical Genetics, Hospital de Reabilitação de Anomalias Craniofaciais, University of Sao Paulo USP, SP, Bauru, Brazil
    Clin Dysmorphol 15:171-4. 2006
    ..cases and reviewed two previously reported patients with a characteristic combination of signs including mandibulofacial dysostosis, a clinical suggestion of trigonocephaly, microcephaly, unusual ears with skin tags, and cleft palate...
  57. ncbi Extra phenotypic features in a girl with Miller syndrome
    Ali Al Kaissi
    Ludwig Boltzmann Institute of Osteology at the Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, 4th Medical Department, Hanusch Hospital, Vienna, Austria
    Clin Dysmorphol 20:66-72. 2011
    ..Interestingly, the father had a history of postaxial polydactyly. We speculated that the postaxial polydactyly in the father was either a heterozygote manifestation or is unrelated...
  58. ncbi The nosology of Richieri-Costa/Guion-Almeida syndrome(s)
    Marco Castori
    Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo Forlanini Hospital, Rome, Italy
    Am J Med Genet A 155:398-402. 2011
    ..By comparing the present and previously reported patients with RCGAS1 and 2, we tried to contribute to syndrome delineation and to separate them from conditions with similar facial anomalies...
  59. ncbi What syndrome is this? Treacher Collins-Franceschetti syndrome
    Arun C Inamadar
    Department of Dermatology, Venereology and Leprosy, BLDEA s SBMP Medical College, Hospital and Research Centre, Bijapur, Karnataka, India
    Pediatr Dermatol 23:511-3. 2006
  60. ncbi Mandibulofacial dysostosis, severe lower eyelid coloboma, cleft palate, and alopecia: A new distinct form of mandibulofacial dysostosis or a severe form of Johnson-McMillin syndrome?
    Roseli Maria Zechi-Ceide
    Department of Clinical Genetics, Hospital of Rehabilitation of Craniofacial Anomalies HRAC, University of Sao Paulo, Bauru, SP, Brazil
    Am J Med Genet A 152:1838-40. 2010
    We describe a patient with a phenotype characterized by mandibulofacial dysostosis with severe lower eyelid coloboma, cleft palate, abnormal ears, alopecia, delayed eruption and crowded teeth, and sensorioneural hearing loss...
  61. ncbi A soft-tissue approach to midfacial hypoplasia associated with Treacher Collins syndrome
    Pierre Saadeh
    Institute of Reconstructive Plastic Surgery, New York University Medical Center, New York, NY, USA
    Ann Plast Surg 56:522-5. 2006
    INTRODUCTION: Treacher Collins syndrome is an autosomal dominant mandibulofacial dysostosis with characteristic hard- and soft-tissue facial abnormalities...
  62. ncbi Exome sequencing identifies the cause of a mendelian disorder
    Sarah B Ng
    Department of Genome Sciences, University of Washington, Seattle, Washington, USA
    Nat Genet 42:30-5. 2010
    ..Exome sequencing of a small number of unrelated affected individuals is a powerful, efficient strategy for identifying the genes underlying rare mendelian disorders and will likely transform the genetic analysis of monogenic traits...
  63. ncbi Mandibulofacial dysostosis, microtia, and limb anomalies in a newborn: a new form of acrofacial dysostosis syndrome?
    Y Zhang
    Key Laboratory of Laboratory Medical Diagnostics, Chongqing Medical University, Ministry of Education, Chongqing 400016, PR China
    Clin Genet 78:570-4. 2010
    ..We present a distinct AFD case with mandibulofacial dysostosis, microtia and limb malformations but without limb defects, which may represent a new form of AFD...
  64. ncbi CAD/CAM bilateral ear prostheses construction for Treacher Collins syndrome patients using laser scanning and rapid prototyping
    Leonardo Ciocca
    Department of Oral Sciences, University of Bologna, Via S Vitale 59, Bologna 40126, Italy
    Comput Methods Biomech Biomed Engin 13:379-86. 2010
    ....
  65. ncbi Mutations and new polymorphic changes in the TCOF1 gene of patients with oculo-auriculo-vertebral spectrum and Treacher-Collins syndrome
    Pen Hua Su
    Institute of Medicine, Chung Shan Medical University, Taichung, Taiwan
    Clin Dysmorphol 16:261-7. 2007
    ..These observations strongly suggest that the TCOF1 genetic changes observed in these five patients might be related to oculo-auriculo-vertebral spectrum symptoms...
  66. ncbi The use of three-dimensional computed tomography images for anticipated difficult intubation airway evaluation of a patient with Treacher Collins syndrome
    Yusuke Nagamine
    Department of Anesthesiology and Critical Care Medicine, Yokohama City University Graduate School of Medicine, Yokohama, Japan
    Anesth Analg 105:626-8. 2007
    ..We took three-dimensional computed tomography images to better evaluate the anatomical features of the upper airway. The patient's anesthetic airway management was influenced by the findings of the images...
  67. ncbi [Embryology of the face and oto-mandibular dysplasia]
    Jean Baptiste Charrier
    Service de chirurgie de la face et du cou du Pr Bobin, CHU de Bicetre, AP HP, 78, Avenue du General Leclerc, 94275 Kremlin Bicetre Cedex, France
    Orthod Fr 78:7-24. 2007
    Otomandibular dysplasias encompass a broad range of congenital malformations (hemifacial microsomia, mandibulofacial dysostosis) affecting both jaw and ear apparatus...
  68. ncbi Saving face: rescuing a craniofacial birth defect
    Sonja Jane McKeown
    Nat Med 14:115-6. 2008
  69. ncbi A review of physical, behavioral, and oral characteristics associated with Treacher Collins syndrome, Goldenhar syndrome, and Angelman syndrome
    Carlton V Horbelt
    Division of Pediatric and Community Oral Health, University of Tennessee College of Dentistry, Memphis, USA
    Gen Dent 56:416-9. 2008
  70. ncbi Clinical and imaging correlations of Treacher Collins syndrome: report of two cases
    Marina H C G Magalhaes
    Dentistry School, University of Sao Paulo, Sao Paulo, SP, Brazil
    Oral Surg Oral Med Oral Pathol Oral Radiol Endod 103:836-42. 2007
    b>Mandibulofacial dysostosis (Treacher Collins Syndrome) is an autosomal dominant genetic disorder that probably derives from inhibition of the facial structures from the first and second branchial arches...
  71. ncbi Cleft palate, bilateral external auditory canal atresia, and other midline defects associated with Diamond-Blackfan anemia: case report
    Alicia McFarren
    Department of Pediatrics, New York Medical College, and Maria Fareri Children s Hospital, Valhalla, New York 10595, USA
    J Pediatr Hematol Oncol 29:338-40. 2007
    ..Herein, we describe a female infant with multiple midline defects associated with DBA and reaffirm the absence of RPS-19 mutations in DBA patients with facial anomalies...
  72. ncbi Mandibulofacial dysostosis in a patient with a de novo 2;17 translocation that disrupts the HOXD gene cluster
    David A Stevenson
    Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, Utah 84132, USA
    Am J Med Genet A 143:1053-9. 2007
    Treacher Collins syndrome (TCS) is the prototypical mandibulofacial dysostosis syndrome, but other mandibulofacial dysostosis syndromes have been described...
  73. ncbi Detection of a novel silent deletion, a missense mutation and a nonsense mutation in TCOF1
    Hirotaka Fujioka
    Research Group of Human Gene Therapy, Hokkaido University Graduate School of Medicine, Sapporo, Hokkaido, Japan
    Pediatr Int 50:806-9. 2008
    ..TCS is inherited as an autosomal dominant trait, and haploinsufficiency of the TCOF1 gene product treacle is proposed to be etiologically involved...
  74. ncbi Treacher Collins syndrome: etiology, pathogenesis and prevention
    Paul A Trainor
    Stowers Institute for Medical Research, Kansas City, MO 64110, USA
    Eur J Hum Genet 17:275-83. 2009
    ..Recent research using animal models has not only determined the cellular basis of TCS but also, more importantly, unveiled a successful avenue for therapeutic intervention and prevention of the craniofacial anomalies observed in TCS...
  75. ncbi A synonymous mutation in TCOF1 causes Treacher Collins syndrome due to mis-splicing of a constitutive exon
    D Macaya
    Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland, USA
    Am J Med Genet A 149:1624-7. 2009
    ..3612A > C mutation. This study highlights the importance of clinical and pedigree evaluation in the interpretation of known and novel sequence alterations...
  76. ncbi Clinical experience with the application of distraction osteogenesis for airway obstruction
    David G Genecov
    International Craniofacial Institute Cleft Lip and Palate Treatment Center, Dallas, Texas 75230, USA
    J Craniofac Surg 20:1817-21. 2009
    ..They all met the criteria for a multidisciplinary team evaluation consisting of upper airway endoscopy, swallowing evaluations, standard overnight polysomnography, and radiologic evaluations of the airway and craniofacial structures...
  77. ncbi Prevalence of dental anomalies, ectopic eruption and associated oral malformations in subjects with Treacher Collins syndrome
    Gisele da Silva Dalben
    Public Health Dentistry Sector, Hospital for Rehabilitation of Craniofacial Anomalies of University of São Paulo, Bauru, SP, Brazil
    Oral Surg Oral Med Oral Pathol Oral Radiol Endod 101:588-92. 2006
    ..To examine the prevalence of dental anomalies in the deciduous and permanent teeth, ectopic eruption of permanent first molars, and associated oral malformations in individuals with Treacher Collins syndrome...
  78. ncbi Cloning of the human heparan sulfate-N-deacetylase/N-sulfotransferase gene from the Treacher Collins syndrome candidate region at 5q32-q33.1
    J Dixon
    School of Biological Sciences, University of Manchester, United Kingdom
    Genomics 26:239-44. 1995
    ..The smaller species has a 3' UTR of 1035 bp, whereas that of the larger is 4878 bp...
  79. ncbi [SHG presents itself and the disease picture: Franceschetti syndrome]
    Björn Kabuss
    Kinderkrankenschwester 21:280. 2002
  80. ncbi [Analysis of TCOF1 gene of eight Japanese patients with Treacher Collins syndrome]
    Katsumi Horiuchi
    Hokkaido University Graduate School of Medicine, Sapporo 060-8638, Japan
    Hokkaido Igaku Zasshi 78:419-28. 2003
  81. ncbi Ultrasonographic prenatal diagnosis of Treacher Collins syndrome: a case report
    Pornpimol Ruangvutilert
    Division of Maternal Fetal Medicine, Department of Obstetrics and Gynaecology, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok 10700, Thailand
    J Med Assoc Thai 86:482-8. 2003
    ..Her husband had stigmata of the syndrome. Ultrasonography revealed polyhydramnios, abnormal fetal ears and marked micrognathia. Abortion occurred spontaneously at 26 weeks of gestation. The abortus bore clinical features of the syndrome...
  82. ncbi Spontaneous expression of FRA3P in a patient with Nager syndrome
    Luca Scapoli
    Am J Med Genet A 118:293-5. 2003
  83. ncbi Treacher Collins syndrome (mandibulofacial dysostosis)
    Miquel A Crovetto
    Hospital de Basurto, Vizcaya, Spain
    Otol Neurotol 23:1005. 2002
  84. ncbi Prenatal diagnosis and confirmation of the acrofacial dysostosis syndrome type Rodriguez
    M W Wessels
    Department of Obstetrics and Gynaecology, University Hospital Dijkzigt, Rotterdam, The Netherlands
    Am J Med Genet 113:97-100. 2002
    ..We describe another case of AFD type Rodriguez, identified by prenatal ultrasonography at 25 weeks of gestation...
  85. ncbi Co-occurrence of Down syndrome and Treacher-Collins syndrome
    Tohru Sonoda
    Department of Pediatrics and Perinatal Center, Miyazaki Medical College, Kiyotake-cho, Miyazaki, Japan
    Pediatr Int 44:440-2. 2002
  86. ncbi Mandibulofacial dysostosis (Treacher Collins syndrome): a case report
    D L Mittman
    Department of Dermatology, Henry Ford Hospital, Detroit, MI 48202
    J Natl Med Assoc 84:1051-4. 1992
    b>Mandibulofacial dysostosis, also known as Treacher Collins syndrome, is a rare congenital anomaly that must be identified in infancy to prevent irrevocable developmental impairment...
  87. ncbi [Mandibular growth, its environmental interactions]
    B Raphael
    Service de chirurgie plastique et maxillofaciale, Centre Hospitalier Universitaire de Grenoble, BP 217, 38043 Grenoble, France
    Ann Chir Plast Esthet 46:478-94. 2001
    ..The mandibular body is interacting with the maxilla and the anterior cranial base. Its occlusal role is a function of the adaptive capacity of the alveolodental region...
  88. ncbi Induced and genetic mouse middle ear ossicular malformations: a model for human malformative ossicular diseases and a tool for clarifying their normal ontogenesis
    S Louryan
    Laboratoire d Anatomie et Embryologie Humaines, Universite Libre de Bruxelles, Faculte de Medecine, Belgique
    Surg Radiol Anat 14:227-32. 1992
    ..middle ear ossicles, associated with a general kind of craniofacial dysmorphogenesis evoking the human mandibulofacial dysostosis. The malleus, incus and stapes are affected...
  89. ncbi Human PRRX1 and PRRX2 genes: cloning, expression, genomic localization, and exclusion as disease genes for Nager syndrome
    R A Norris
    Medical University of South Carolina, Department of Cell Biology and Anatomy, Charleston 29425 2204, USA
    Mamm Genome 11:1000-5. 2000
    ..The data excludes mutations in the presumed coding sequences of these genes from causing NAFD...
  90. ncbi Magnetic resonance imaging of the fetus: a study of 20 cases performed without curarization
    M P Revel
    Department of Radiology, A Beclere Hospital, Clamart, France
    Prenat Diagn 13:775-99. 1993
    ..Fetal MRI may be performed without curarization. Surface coils allow the detailed analysis of brain parenchyma, and thus MRI is especially useful in the difficult prenatal diagnosis of fetal brain abnormalities...
  91. ncbi Mandibular lengthening by distraction for airway obstruction in treacher-collins syndrome: the long-term results
    Peter J Anderson
    Australian Craniofacial Unit, Women s and Children s Hospitals, University of Adelaide, South Australia, Australia
    J Craniofac Surg 15:47-50. 2004
    ..It is significant that the abnormal growth pattern of the mandible, which is characteristic of this syndrome, did not alter from its preoperative pattern once distraction was completed...
  92. ncbi The airway in patients with craniofacial abnormalities
    Charles Nargozian
    Department of Anesthesiology, The Children s Hospital, Boston, MA 02115 5737, USA
    Paediatr Anaesth 14:53-9. 2004
    ..management include cleft lip and palate with or without Pierre Robin syndrome, craniofacial dysostosis, mandibulofacial dysostosis/Treacher Collins syndrome, hemifacial microsomia, Klippel-Feil syndrome, Beckwith-Wiedemann syndrome, ..
  93. ncbi Genetic background has a major effect on the penetrance and severity of craniofacial defects in mice heterozygous for the gene encoding the nucleolar protein Treacle
    Jill Dixon
    School of Biological Sciences and Department of Dental Medicine and Surgery, University of Manchester, Manchester, United Kingdom
    Dev Dyn 229:907-14. 2004
    ..The results of our studies indicate that factors in the different genetic backgrounds contribute extensively to the Tcof1 phenotype...
  94. ncbi Neonatal distraction surgery for micrognathia reduces obstructive apnea and the need for tracheotomy
    William Wittenborn
    J Craniofac Surg 15:623-30. 2004
    ..The mean follow-up interval was 16.5 months (range: 8-48 months). Neonatal distraction is an effective method for treatment of micrognathia with obstructive sleep apnea in the perinatal period in preventing a tracheotomy...
  95. ncbi Successes and failures with the laryngeal mask airway (LMA) in patients with Treacher Collins syndrome - a case series
    Koichi Takita
    Can J Anaesth 50:969-70. 2003
  96. ncbi Treacher Collins syndrome with choanal atresia: one way to handle the airway
    Eva Nilsson
    Paediatr Anaesth 14:700-1. 2004
  97. ncbi The Treacher Collins syndrome (TCOF1) gene product is involved in pre-rRNA methylation
    Bianca Gonzales
    Department of Pharmacology, Baylor College of Medicine, Houston, TX 77030, USA
    Hum Mol Genet 14:2035-43. 2005
    ....
  98. ncbi Otologic and audiologic features of Nager acrofacial dysostosis
    Brian W Herrmann
    Washington University School of Medicine, Department of Otolaryngology Head and Neck Surgery, Washington, DC, USA
    Int J Pediatr Otorhinolaryngol 69:1053-9. 2005
    ..To describe the otologic and audiologic characteristics of pediatric patients with Nager acrofacial dysostosis...
  99. ncbi Reduced TCOF1 mRNA level in a rhesus macaque with Treacher Collins-like syndrome: further evidence for haploinsufficiency of treacle as the cause of disease
    Kathryn H Shows
    Department of Human Genetics, Virginia Commonwealth University, Richmond, Virginia 23298 0033, USA
    Mamm Genome 17:168-77. 2006
    Mutations in the human gene TCOF1 cause a mandibulofacial dysostosis known as Treacher Collins syndrome (TCS)...
  100. ncbi Vertical mesenchymal distraction and bilateral free fibula transfer for severe Treacher Collins syndrome
    Humberto L Acosta
    Joe DiMaggio Children's Hospital Cleft and Craniofacial Center, Hollywood, FL, USA
    Plast Reconstr Surg 113:1209-17; discussion 1218. 2004
  101. ncbi Orthodontic and surgical treatment of patients with congenital unilateral and bilateral mandibulofacial dysostosis
    Charlotte Opitz
    Department of Orthodontics, Charite Universitatsmedizin Berlin, Campus Virchow Klinikum, Berlin, Germany
    J Orofac Orthop 65:150-63. 2004
    Presentation of results following therapy of patients with different forms of mandibulofacial dysostosis.

Research Grants27

  1. Software for the creation and quality control of genome annotations
    MARK DOUGLAS YANDELL; Fiscal Year: 2010
    ....
  2. Craniofacial Development and Disease
    Paul A Trainor; Fiscal Year: 2010
    ....
  3. Regulation of Treacher Collins Syndrome TCOF1 gene
    KATHRYN SHOWS; Fiscal Year: 2007
    ....
  4. Intrinsic and extrinsic regulation of cranial mesoderm
    Paul Trainor; Fiscal Year: 2007
    ....
  5. Osseous Abnormalities in Neurofibromatosis Type 1
    David Stevenson; Fiscal Year: 2007
    ..abstract_text> ..
  6. Whole genome screen for novel regulators of tissue homeostasis and regeneration
    MARK DOUGLAS contact YANDELL; Fiscal Year: 2010
    ....