Research Topics
Genomes and Genes
| Anita RauchSummaryAffiliation: University of Erlangen-Nuremberg Country: Germany Publications
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Detail Information
Publications
Mutations in the pericentrin (PCNT) gene cause primordial dwarfismAnita 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)...- Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expressionMarkus 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... 
Molecular karyotyping in patients with mental retardation using 100K single-nucleotide polymorphism arraysJuliane 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...- Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1Anne 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... - 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 delayChristian 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.... - Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disabilityJuliane Hoyer
Institute of Human Genetics, University of Erlangen Nuremberg, Germany
Am J Hum Genet 90:565-72. 2012.... - Independent NF1 and PTPN11 mutations in a family with neurofibromatosis-Noonan syndromeChristian 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... 
A missense mutation in the ZFHX1B gene associated with an atypical Mowat-Wilson syndrome phenotypeWolfram 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...- Microdeletions of chromosome 7p21, including TWIST1, associated with significant microcephaly, facial dysmorphism, and short statureAndreas 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... - Atypical ZFHX1B mutation associated with a mild Mowat-Wilson syndrome phenotypeChristiane 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... - Two novel mutations in the insulin binding subunit of the insulin receptor gene without insulin binding impairment in a patient with Rabson-Mendenhall syndromeChristian 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... - Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardationAnita 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... - Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrumChristian T Thiel
Institute of Human Genetics, University Hospital Erlangen, University of Erlangen Nuremberg, Erlangen, Germany
Am J Hum Genet 81:519-29. 2007.... - A male infant with a 9.6 Mb terminal Xp deletion including the OA1 locus: Limit of viability of Xp deletions in malesVolker 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... - CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in DrosophilaChristiane 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... - A variable combination of features of Noonan syndrome and neurofibromatosis type I are caused by mutations in the NF1 geneUlrike Huffmeier
Institute of Human Genetics, University Erlangen Nuremberg, Erlangen, Germany
Am J Med Genet A 140:2749-56. 2006.... - 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... - Chromosome 5q subtelomeric deletion syndromeAnita 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... - Familial short stature due to a 5q22.1-q23.2 duplication refines the 5q duplication spectrumDiana 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... - 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.... - A 15Mb duplication of 6q24.1-q25.3 associated with typical but milder features of the duplication 6q syndromeChristiane 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... - 6.7 Mb interstitial duplication in chromosome band 11q24.2q25 associated with infertility, minor dysmorphic features and normal psychomotor developmentIna 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... - Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletionsChristiane 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... - Clinical and mutational spectrum of Mowat-Wilson syndromeChristiane 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... - A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patientsHartmut Engels
Institute of Human Genetics, Rheinische Friedrich Wilhelms University, Bonn, Germany
Eur J Hum Genet 17:1592-9. 2009..3 microdeletion syndrome... - 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... - Highly variable cutis laxa resulting from a dominant splicing mutation of the elastin geneLuitgard 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... - The molecular basis of the cartilage-hair hypoplasia-anauxetic dysplasia spectrumChristian 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... - Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypesSabine 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... - Novel missense, insertion and deletion mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) associated with congenital insensitivity to pain with anhidrosisKathrin 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... - Severe skeletal dysplasia caused by undiagnosed hypothyroidismUlrike 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... - Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardationFrancesca 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... - "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 geneChristiane 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.".. - Genotype-phenotype correlations in Noonan syndromeMartin 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... - Disruption of the histone acetyltransferase MYST4 leads to a Noonan syndrome-like phenotype and hyperactivated MAPK signaling in humans and miceMichael 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... - Novel autosomal recessive progressive hyperpigmentation syndromeUlrike 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... - NEK1 mutations cause short-rib polydactyly syndrome type majewskiChristian 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... - Hypoparathyroidism in conotruncal heart defectsAndreas Koch
Department of Paediatrics and Adolescent Medicine, University of Erlangen Nurnberg, Germany
Eur J Pediatr 161:208-11. 2002..CONCLUSION: Hypoparathyroidism occurred in 7 of our 28 patients with conotruncal heart defect and monosomy 22q11.2 and was associated with an extended regression of the 4th aortic arch development on both sides of the aortic arch system... - Spectrum of arterial obstructions caused by one elastin gene point mutationAndreas Koch
Department of Paediatrics and Adolescent Medicine, Paediatric Cardiology, , Loschgestrasse 15, 91054 Erlangen, Germany
Eur J Pediatr 162:53-4. 2003 - 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 transcriptsMartin Zenker
Institute of Human Genetics, University of Erlangen Nuremberg, Germany
Am J Hum Genet 74:731-7. 2004.... - Exclusion of TCOF1 mutations in a case of bilateral Goldenhar syndrome and one familial case of microtia with meatal atresiaChristian 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... - Search for somatic 22q11.2 deletions in patients with conotruncal heart defectsAnita 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... - Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulatorChristian 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... - Clinical, cytogenetic and molecular characterization of a patient with combined succinic semialdehyde dehydrogenase deficiency and incomplete WAGR syndrome with obesityRonny 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... - A new quantitative PCR multiplex assay for rapid analysis of chromosome 17p11.2-12 duplications and deletions leading to HMSN/HNPPChristian 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... - A novel 5q35.3 subtelomeric deletion syndromeAnita Rauch
Institute of Human Genetics, Friedrich Alexander University Erlangen Nuremberg, Germany
Am J Med Genet A 121:1-8. 2003....