Anita Rauch

Summary

Affiliation: University of Erlangen-Nuremberg
Country: Germany

Publications

  1. doi request reprint Mutations in the pericentrin (PCNT) gene cause primordial dwarfism
    Anita Rauch
    Institute of Human Genetics, University Hospital Erlangen, Friedrich Alexander University Erlangen Nuremberg, Erlangen, Germany
    Science 319:816-9. 2008
  2. doi request reprint Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression
    Markus Zweier
    Institute of Human Genetics, Friedrich Alexander University Erlangen Nuremberg, Erlangen, Germany
    Hum Mutat 31:722-33. 2010
  3. pmc Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1
    Anne Gregor
    Institute of Human Genetics, Friedrich Alexander University Erlangen Nuremberg, Erlangen, Germany
    BMC Med Genet 12:106. 2011
  4. pmc Molecular karyotyping in patients with mental retardation using 100K single-nucleotide polymorphism arrays
    Juliane Hoyer
    Institute of Human Genetics, University Hospital Erlangen, Friedrich Alexander University Erlangen Nuremberg, Schwabachanlage 10, 91054 Erlangen, Germany
    J Med Genet 44:629-36. 2007
  5. doi request reprint A de novo 7.6Mb tandem duplication of 14q32.2-qter associated with primordial short stature with neurosecretory growth hormone dysfunction, distinct facial anomalies and mild developmental delay
    Christian T Thiel
    Institute of Human Genetics, University Hospital Erlangen, Friedrich Alexander University Erlangen Nuremberg, Schwabachanlage 10, Erlangen 91054, Germany
    Eur J Med Genet 51:362-7. 2008
  6. pmc De novo mutations in the genome organizer CTCF cause intellectual disability
    Anne Gregor
    Institute of Human Genetics, Friedrich Alexander Universitat Erlangen Nurnberg, 91054 Erlangen, Germany
    Am J Hum Genet 93:124-31. 2013
  7. pmc Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability
    Juliane Hoyer
    Institute of Human Genetics, University of Erlangen Nuremberg, Germany
    Am J Hum Genet 90:565-72. 2012
  8. ncbi request reprint A missense mutation in the ZFHX1B gene associated with an atypical Mowat-Wilson syndrome phenotype
    Wolfram Heinritz
    Institute of Human Genetics, University of Leipzig Medical Faculty, Leipzig, Germany
    Am J Med Genet A 140:1223-7. 2006
  9. doi request reprint Independent NF1 and PTPN11 mutations in a family with neurofibromatosis-Noonan syndrome
    Christian Thiel
    Insitute of Human Genetics, Friedrich Alexander University of Erlangen Nuremberg, Erlangen, Germany
    Am J Med Genet A 149:1263-7. 2009
  10. pmc Rare copy number variants are a common cause of short stature
    Diana Zahnleiter
    Institute of Human Genetics, Friedrich Alexander University Erlangen Nuremberg, Erlangen, Germany
    PLoS Genet 9:e1003365. 2013

Detail Information

Publications48

  1. doi request reprint Mutations in the pericentrin (PCNT) gene cause primordial dwarfism
    Anita Rauch
    Institute of Human Genetics, University Hospital Erlangen, Friedrich Alexander University Erlangen Nuremberg, Erlangen, Germany
    Science 319:816-9. 2008
    ..Absence of PCNT results in disorganized mitotic spindles and missegregation of chromosomes. Mutations in related genes are known to cause primary microcephaly (MCPH1, CDK5RAP2, ASPM, and CENPJ)...
  2. doi request reprint Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression
    Markus Zweier
    Institute of Human Genetics, Friedrich Alexander University Erlangen Nuremberg, Erlangen, Germany
    Hum Mutat 31:722-33. 2010
    ..We therefore conclude that the phenotypic overlap of patients with MEF2C mutations and atypical Rett syndrome is due to the involvement of a common pathway...
  3. pmc Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1
    Anne Gregor
    Institute of Human Genetics, Friedrich Alexander University Erlangen Nuremberg, Erlangen, Germany
    BMC Med Genet 12:106. 2011
    ..Recently, homozygous or compound heterozygous defects in either gene were reported as causative for severe intellectual disability...
  4. pmc Molecular karyotyping in patients with mental retardation using 100K single-nucleotide polymorphism arrays
    Juliane Hoyer
    Institute of Human Genetics, University Hospital Erlangen, Friedrich Alexander University Erlangen Nuremberg, Schwabachanlage 10, 91054 Erlangen, Germany
    J Med Genet 44:629-36. 2007
    ..However, data analysis is currently not standardised and little is known about its sensitivity and specificity...
  5. doi request reprint A de novo 7.6Mb tandem duplication of 14q32.2-qter associated with primordial short stature with neurosecretory growth hormone dysfunction, distinct facial anomalies and mild developmental delay
    Christian T Thiel
    Institute of Human Genetics, University Hospital Erlangen, Friedrich Alexander University Erlangen Nuremberg, Schwabachanlage 10, Erlangen 91054, Germany
    Eur J Med Genet 51:362-7. 2008
    ....
  6. pmc De novo mutations in the genome organizer CTCF cause intellectual disability
    Anne Gregor
    Institute of Human Genetics, Friedrich Alexander Universitat Erlangen Nurnberg, 91054 Erlangen, Germany
    Am J Hum Genet 93:124-31. 2013
    ..Our findings indicate that haploinsufficiency of CTCF affects genomic interaction of enhancers and their regulated gene promoters that drive developmental processes and cognition. ..
  7. pmc Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability
    Juliane Hoyer
    Institute of Human Genetics, University of Erlangen Nuremberg, Germany
    Am J Hum Genet 90:565-72. 2012
    ....
  8. ncbi request reprint A missense mutation in the ZFHX1B gene associated with an atypical Mowat-Wilson syndrome phenotype
    Wolfram Heinritz
    Institute of Human Genetics, University of Leipzig Medical Faculty, Leipzig, Germany
    Am J Med Genet A 140:1223-7. 2006
    ..We report on the clinical findings in a 2(1/2)-year-old boy with some aspects out of the MWS-spectrum in addition to unusual anomalies and a novel missense mutation in the ZFHX1B gene...
  9. doi request reprint Independent NF1 and PTPN11 mutations in a family with neurofibromatosis-Noonan syndrome
    Christian Thiel
    Insitute of Human Genetics, Friedrich Alexander University of Erlangen Nuremberg, Erlangen, Germany
    Am J Med Genet A 149:1263-7. 2009
    ..In contrast to previous findings, we speculate that absence of cutaneous neurofibromas is not solely associated with the recurrent 3-bp in-frame deletion in exon 17...
  10. pmc Rare copy number variants are a common cause of short stature
    Diana Zahnleiter
    Institute of Human Genetics, Friedrich Alexander University Erlangen Nuremberg, Erlangen, Germany
    PLoS Genet 9:e1003365. 2013
    ..Overall 10% of patients carried a disease-causing CNV indicating that, like in neurodevelopmental disorders, rare CNVs are a frequent cause of severe growth retardation...
  11. doi request reprint Microdeletions of chromosome 7p21, including TWIST1, associated with significant microcephaly, facial dysmorphism, and short stature
    Andreas Busche
    Institute of Human Genetics, University Hospital Freiburg, Freiburg, Germany
    Eur J Med Genet 54:256-61. 2011
    ..In the two patients with larger microdeletions, severe mental retardation and significant short stature are present. Facial dysmorphism of patient 3 includes also signs of blepharophimosis-ptosis-epicanthus inversus syndrome...
  12. doi request reprint Two novel mutations in the insulin binding subunit of the insulin receptor gene without insulin binding impairment in a patient with Rabson-Mendenhall syndrome
    Christian T Thiel
    Institute of Human Genetics, Friedrich Alexander University of Erlangen Nuremberg, Schwabachanlage 10, D 91054 Erlangen, Germany
    Mol Genet Metab 94:356-62. 2008
    ..Our data indicate that the quality of insulin binding activity is correlated with survival, not with the dysmorphic phenotype, and it is not always a valid parameter for predicting INSR mutations as proposed...
  13. ncbi request reprint Atypical ZFHX1B mutation associated with a mild Mowat-Wilson syndrome phenotype
    Christiane Zweier
    Institute of Human Genetics, Friedrich Alexander University Erlangen Nuremberg, Erlangen, Germany
    Am J Med Genet A 140:869-72. 2006
    ..The aberrant protein therefore contains all known functional domains, but might lack a so far unrecognized putative N-terminal acylation site, which is probably important for neuronal function and facial structures...
  14. ncbi request reprint Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation
    Anita Rauch
    Institute of Human Genetics, Friedrich Alexander University Erlangen Nuremberg, Erlangen, Germany
    Am J Med Genet A 140:2063-74. 2006
    ..If molecular karyotyping is not available, subtelomeric screening should be performed...
  15. pmc Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrum
    Christian T Thiel
    Institute of Human Genetics, University Hospital Erlangen, University of Erlangen Nuremberg, Erlangen, Germany
    Am J Hum Genet 81:519-29. 2007
    ....
  16. ncbi request reprint A male infant with a 9.6 Mb terminal Xp deletion including the OA1 locus: Limit of viability of Xp deletions in males
    Volker O Melichar
    Department of Pediatrics, Friedrich Alexander University Erlangen Nuremberg, Erlangen, Germany
    Am J Med Genet A 143:135-41. 2007
    ..2 at about 10-11 Mb from the telomere, this patient falls into the category of the most severe male terminal Xp deletion phenotype...
  17. pmc CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila
    Christiane Zweier
    Institute of Human Genetics, Friedrich Alexander University Erlangen Nuremberg, 91054 Erlangen, Germany
    Am J Hum Genet 85:655-66. 2009
    ..We therefore propose that an analogous shared synaptic mechanism contributes to the similar clinical phenotypes resulting from defects in human NRXN1 and CNTNAP2...
  18. ncbi request reprint A variable combination of features of Noonan syndrome and neurofibromatosis type I are caused by mutations in the NF1 gene
    Ulrike Huffmeier
    Institute of Human Genetics, University Erlangen Nuremberg, Erlangen, Germany
    Am J Med Genet A 140:2749-56. 2006
    ....
  19. doi request reprint 7 Mb de novo deletion within 8q21 in a patient with distal arthrogryposis type 2B (DA2B)
    Kristin Hofmann
    Institute of Human Genetics, Friedrich Alexander University Erlangen Nuremberg, Germany
    Eur J Med Genet 54:e495-500. 2011
    ..We propose that the 8q21 region contains a further locus which contributes to the genetically heterogeneous DA2B...
  20. doi request reprint Familial short stature due to a 5q22.1-q23.2 duplication refines the 5q duplication spectrum
    Diana Zahnleiter
    Institute of Human Genetics, University Erlangen Nuremberg, Germany
    Eur J Med Genet 54:e521-4. 2011
    ..We compared the facial features of patients with 5q duplications and found some consistent features such as high arched eyebrows, bulbous nasal tip and small lips with thin vermilion border...
  21. doi request reprint 6.7 Mb interstitial duplication in chromosome band 11q24.2q25 associated with infertility, minor dysmorphic features and normal psychomotor development
    Ina Gohring
    Institute of Human Genetics, Friedrich Alexander University Erlangen Nuremberg, Erlangen, Germany
    Eur J Med Genet 51:666-71. 2008
    ..Cytogenetic analysis showed a 6.7Mb duplication in chromosome band 11q24.2q25, which could be confirmed with FISH and molecular karyotyping using an Affymetrix GeneChip Human Mapping 250K Nsp SNP array...
  22. doi request reprint A 15Mb duplication of 6q24.1-q25.3 associated with typical but milder features of the duplication 6q syndrome
    Christiane Zweier
    Institute of Human Genetics, University Hospital Erlangen, Friedrich Alexander University Erlangen Nuremberg, Schwabachanlage 10, 91054 Erlangen, Germany
    Eur J Med Genet 51:358-61. 2008
    ..Our patient shows typical aspects of the "duplication 6q" syndrome such as hypertelorism, downslanting palpebral fissures, carp shaped mouth and joint contractures, but milder mental retardation and no growth retardation...
  23. ncbi request reprint Clinical and mutational spectrum of Mowat-Wilson syndrome
    Christiane Zweier
    Institute of Human Genetics, Friedrich Alexander University Erlangen Nuremberg, Erlangen, Germany
    Eur J Med Genet 48:97-111. 2005
    ..The lack of missense mutations in MWS and MWS-like patients suggests there may be other, as yet unrecognized phenotypes, associated with missense mutations of this transcription factor...
  24. pmc Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome)
    Christiane Zweier
    Institute of Human Genetics, Institute of Human Genetics, University Hospital Erlangen, Friedrich Alexander University Erlangen Nuremberg, Erlangen, Germany
    Am J Hum Genet 80:994-1001. 2007
    ....
  25. pmc Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions
    Christiane Zweier
    Institute of Human Genetics, Erlangen, Germany
    Am J Hum Genet 80:510-7. 2007
    ..We therefore conclude that TBX1 gain-of-function mutations can result in the same phenotypic spectrum as haploinsufficiency caused by loss-of-function mutations or deletions...
  26. ncbi request reprint Chromosome 5q subtelomeric deletion syndrome
    Anita Rauch
    Institute of Human Genetics, Schwabachanlage 10, 91054 Erlangen, Germany
    Am J Med Genet C Semin Med Genet 145:372-6. 2007
    ..As meiotic mispairing between these low copy repeats seem to be much more likely than a terminal aberration, these neighborhood may prevent occurrence of the subtelomeric deletion syndrome, which could explain the rareness of the latter...
  27. ncbi request reprint Genotype-phenotype correlations in Noonan syndrome
    Martin Zenker
    Institute of Human Genetics, Departments of Pediatric Endocrinology and Pediatric Cardiology, University Children s Hospital, Erlangen, Germany
    J Pediatr 144:368-74. 2004
    ..Mutational analysis was performed by direct sequencing of the entire coding sequence of the PTPN11 gene...
  28. doi request reprint The molecular basis of the cartilage-hair hypoplasia-anauxetic dysplasia spectrum
    Christian T Thiel
    Institute of Human Genetics, University Hospital Erlangen, Friedrich Alexander University Erlangen Nuremberg, Schwabachanlage 10, Erlangen, Germany
    Best Pract Res Clin Endocrinol Metab 25:131-42. 2011
    ..Thus, the clinical phenotype emerges in most cases of the combined effect on the respective effect on RNase MRP function...
  29. pmc A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients
    Hartmut Engels
    Institute of Human Genetics, Rheinische Friedrich Wilhelms University, Bonn, Germany
    Eur J Hum Genet 17:1592-9. 2009
    ..3 microdeletion syndrome...
  30. ncbi request reprint Severe, neonatal-onset OTC deficiency in twin sisters with a de novo balanced reciprocal translocation t(X;5)(p21.1;q11)
    Martin Zenker
    Institute of Human Genetics, Friedrich Alexander University Erlangen Nuremberg, Germany
    Am J Med Genet A 132:185-8. 2005
    ..This report emphasizes the importance of chromosome analysis in any female manifesting severe OTC deficiency...
  31. doi request reprint Highly variable cutis laxa resulting from a dominant splicing mutation of the elastin gene
    Luitgard M Graul-Neumann
    Institute of Human Genetics, Charite, Campus Virchow Klinikum, Berlin, Germany
    Am J Med Genet A 146:977-83. 2008
    ..Analysis of ELN expression in fibroblasts provided evidence for a dominant-negative effect in the child, while due to an unknown mechanism, the father showed haploinsufficiency which might explain the significant clinical variability...
  32. ncbi request reprint Novel missense, insertion and deletion mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) associated with congenital insensitivity to pain with anhidrosis
    Kathrin Huehne
    University Hospital Erlangen, Institute of Human Genetics, Erlangen, Germany
    Neuromuscul Disord 18:159-66. 2008
    ..7335164-7336545del), a homozygous insertion c.722_723insC in exon 7 and two compound heterozygous mutations (p.Q558X+p.L717R). The less typical patient as well as one HSAN IV patient revealed no NTRK1 mutation...
  33. doi request reprint Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes
    Sabine Endele
    Institute of Human Genetics, University of Erlangen Nuremberg, Erlangen, Germany
    Nat Genet 42:1021-6. 2010
    ..Our findings suggest that disturbances in the neuronal electrophysiological balance during development result in variable neurological phenotypes depending on which NR2 subunit of NMDA receptors is affected...
  34. pmc Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation
    Francesca Pasutto
    Institute of Human Genetics, Friedrich Alexander University Erlangen Nuremberg, Erlangen, Germany
    Am J Hum Genet 80:550-60. 2007
    ..STRA6 mutations thus define a pleiotropic malformation syndrome representing the first human phenotype associated with mutations in a gene from the "STRA" group...
  35. ncbi request reprint "Mowat-Wilson" syndrome with and without Hirschsprung disease is a distinct, recognizable multiple congenital anomalies-mental retardation syndrome caused by mutations in the zinc finger homeo box 1B gene
    Christiane Zweier
    Institute of Human Genetics, Friedrich Alexander University of Erlangen Nuremberg, Erlangen, Germany
    Am J Med Genet 108:177-81. 2002
    ..We demonstrate that there is a specific clinical entity with a recognizable facial gestalt, mental retardation and variable MCAs which we propose be called the "Mowat-Wilson syndrome."..
  36. ncbi request reprint Severe skeletal dysplasia caused by undiagnosed hypothyroidism
    Ulrike Huffmeier
    Institute of Human Genetics, University Hospital Erlangen, Friedrich Alexander University of Erlangen Nuremberg, Schwabachanlage 10, Erlangen, Germany
    Eur J Med Genet 50:209-15. 2007
    ..In this patient we found no evidence for a mutation of the PAX8 gene known to cause an ectopic and/or hypoplastic thyroid...
  37. ncbi request reprint Novel autosomal recessive progressive hyperpigmentation syndrome
    Ulrike Huffmeier
    Institute of Human Genetics, Friedrich Alexander University of Erlangen Nuremberg, Germany
    Am J Med Genet A 135:195-9. 2005
    ..Extensive review of the literature showed no previous report with this distinct combination of clinical and microscopic findings...
  38. pmc NEK1 mutations cause short-rib polydactyly syndrome type majewski
    Christian Thiel
    Institute of Human Genetics, University Hospital Erlangen, Friedrich Alexander University Erlangen Nuremberg, 91054 Erlangen, Germany
    Am J Hum Genet 88:106-14. 2011
    ..Notably, these findings not only increase the broad spectrum of ciliar disorders, but suggest a correlation between the degree of defective microtubule or centriole elongation and organization and the severity of the resulting phenotype...
  39. pmc Disruption of the histone acetyltransferase MYST4 leads to a Noonan syndrome-like phenotype and hyperactivated MAPK signaling in humans and mice
    Michael Kraft
    Institute of Human Genetics, Friedrich Alexander University Erlangen Nuremberg, Erlangen, Germany
    J Clin Invest 121:3479-91. 2011
    ..This finding further elucidates the complex role of histone modifications in mammalian development and adds what we believe to be a new mechanism to the pathogenic phenotypes resulting from misregulation of the RAS signaling pathway...
  40. ncbi request reprint Hypoparathyroidism in conotruncal heart defects
    Andreas Koch
    Department of Paediatrics and Adolescent Medicine, University of Erlangen Nurnberg, Germany
    Eur J Pediatr 161:208-11. 2002
    ..Two patients had unilateral anomalies of the 4th aortic arch system: The origin of the right subclavian artery was cervical or from the descending aorta...
  41. ncbi request reprint Spectrum of arterial obstructions caused by one elastin gene point mutation
    Andreas Koch
    Department of Paediatrics and Adolescent Medicine, Paediatric Cardiology, University of Erlangen Nurnberg, Loschgestrasse 15, 91054 Erlangen, Germany
    Eur J Pediatr 162:53-4. 2003
  42. ncbi request reprint Exclusion of TCOF1 mutations in a case of bilateral Goldenhar syndrome and one familial case of microtia with meatal atresia
    Christian T Thiel
    Institute of Human Genetics, Friedrich Alexander University of Erlangen Nuremberg, Germany
    Clin Dysmorphol 14:67-71. 2005
    ..Thus, genetic heterogeneity in different disorders of the first and second branchial arch development is supported...
  43. pmc A dual phenotype of periventricular nodular heterotopia and frontometaphyseal dysplasia in one patient caused by a single FLNA mutation leading to two functionally different aberrant transcripts
    Martin Zenker
    Institute of Human Genetics, University of Erlangen Nuremberg, Germany
    Am J Hum Genet 74:731-7. 2004
    ....
  44. ncbi request reprint A novel 5q35.3 subtelomeric deletion syndrome
    Anita Rauch
    Institute of Human Genetics, Friedrich Alexander University Erlangen Nuremberg, Germany
    Am J Med Genet A 121:1-8. 2003
    ....
  45. pmc Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulator
    Christian T Thiel
    Institute of Human Genetics, University of Erlangen Nurnberg, Erlangen, Germany
    Am J Hum Genet 77:795-806. 2005
    ..Anauxetic dysplasia mutations thus lead to poor processing of ribosomal RNA while allowing normal mRNA processing and, therefore, genetically separate the different functions of RNase MRP...
  46. ncbi request reprint Search for somatic 22q11.2 deletions in patients with conotruncal heart defects
    Anita Rauch
    Institute of Human Genetics, Friedrich Alexander University, Erlangen Nuremberg, Germany
    Am J Med Genet A 124:165-9. 2004
    ..Thus somatic 22q11.2 deletions apparently do not play a major role in conotruncal heart defects in patients with or without germ line 22q11.2 deletion...
  47. ncbi request reprint Clinical, cytogenetic and molecular characterization of a patient with combined succinic semialdehyde dehydrogenase deficiency and incomplete WAGR syndrome with obesity
    Ronny Jung
    Children and Youth Hospital, University of Erlangen Nuremberg, Erlangen, Germany
    Mol Genet Metab 88:256-60. 2006
    ..In summary, we report the first patient with the exceptional rare findings of both SSADH deficiency and partial WAGR/WAGRO syndrome...
  48. ncbi request reprint A new quantitative PCR multiplex assay for rapid analysis of chromosome 17p11.2-12 duplications and deletions leading to HMSN/HNPP
    Christian T Thiel
    Institute of Human Genetics, University of Erlangen Nuremberg, Schwabachanlage 10, 91054 Erlangen, Germany
    Eur J Hum Genet 11:170-8. 2003
    ..Thus, this method shows superior sensitivity to microsatellite analysis and has the additional advantage of being a fast and uniform assay for quantitative analysis of both CMT1A and HNPP...