Research Topics
Genomes and Genes
| Hans Hilger RopersSummaryAffiliation: Max Planck Institute for Molecular Genetics Country: Germany Publications
| Collaborators
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Detail Information
Publications
Novel types of mutation in the choroideremia ( CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exonJosé A J M van den Hurk
Department of Human Genetics, University Medical Center Nijmegen, P O Box 9101, 6500 HB, Nijmegen, The Netherlands
Hum Genet 113:268-75. 2003..Finally, in an affected male who did not have a mutation in any of the CHM exons or their splice sites, the deletion of a complete exon from the CHM mRNA was observed...- Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardationVera M Kalscheuer
Max Planck Institute for Molecular Genetics, Ihnestrasse 73, 14195, Berlin, Germany
Hum Genet 121:501-9. 2007.... 
On the future of genetic risk assessmentHans Hilger Ropers
Max Planck Institute for Molecular Genetics, Ihnestr 73, 14195, Berlin, Germany
J Community Genet 3:229-36. 2012....- Comparative study of methyl-CpG-binding domain proteinsTim C Roloff
Max Planck Institute for Molecular Genetics, Ihnestrasse 73, 14195 Berlin, Germany
BMC Genomics 4:1. 2003..So far, five vertebrate MBD proteins have been described as MBD family members: MBD1, MBD2, MBD3, MBD4 and MECP2... - CGHPRO -- a comprehensive data analysis tool for array CGHWei Chen
Max Planck Institute for Molecular Genetics, Ihnestrasse 73, 14195 Berlin, Germany
BMC Bioinformatics 6:85. 2005.... - Nonsyndromic X-linked mental retardation: where are the missing mutations?Hans Hilger Ropers
Max Planck Institut fur Molekulare Genetik, Ihnestrasse 73, D 14195 Berlin, Germany
Trends Genet 19:316-20. 2003..In 83% of these families, underlying gene defects are not yet known. Our observations should speed up the search for mutations that are still missing and pave the way for the molecular diagnosis of this common disorder... 
Genetics of intellectual disabilityH Hilger Ropers
Max Planck Institute for Molecular Genetics, Berlin, Germany
Curr Opin Genet Dev 18:241-50. 2008..Ongoing studies into the function of ID genes are shedding more light on the pathogenesis of this disorder, and there is reason to believe that at least some genetic forms of ID may be amenable to drug treatment...- X-linked mental retardationH Hilger Ropers
Max Planck Institute for Molecular Genetics, Ihnestrasse 73, D 14195 Berlin, Germany
Nat Rev Genet 6:46-57. 2005..Here, we review the remarkable recent progress in this field, its promise for understanding neural function, learning and memory, and the implications of this research for health care... - Single gene disorders come into focus--againHans Hilger Ropers
Max Planck Institute for Molecular Genetics, Berlin, Germany
Dialogues Clin Neurosci 12:95-102. 2010.... - Genetics of early onset cognitive impairmentHans Hilger Ropers
Max Planck Institute for Molecular Genetics, Berlin, Germany
Annu Rev Genomics Hum Genet 11:161-87. 2010..As shown for Fra(X) syndrome, this renewed focus on autosomal gene defects will pave the way for molecular diagnosis and prevention, shed more light on the pathogenesis of ID, and reveal new opportunities for therapy... - X-linked mental retardation: many genes for a complex disorderHans Hilger Ropers
Max Planck Institute for Molecular Genetics, Ihnestrasse 73, D 14195 Berlin, Germany
Curr Opin Genet Dev 16:260-9. 2006..Eventually, even therapy of XLMR might become possible, as suggested by the unexpected plasticity of the neuronal wiring in the brain, and the recent successful drug treatment of a fly model for fragile X syndrome... - New perspectives for the elucidation of genetic disordersHans Hilger Ropers
Max Planck Institute for Molecular Genetics, Berlin, Germany
Am J Hum Genet 81:199-207. 2007..Because of the introduction of novel high-throughput, low-cost sequencing methods, sequencing and genotyping will soon converge, with far-reaching implications for the elucidation of genetic disease and health care... - Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardationSarah A Shoichet
Max Planck Institute for Molecular Genetics, Berlin, Germany
Am J Hum Genet 73:1341-54. 2003..Our results suggest that ZNF41 is critical for cognitive development; further studies aim to elucidate the specific mechanisms by which ZNF41 alterations lead to MR... - Molecular cytogenetic analysis of a de novo interstitial deletion of 5q23.3q31.2 and its phenotypic consequencesAndreas Tzschach
Max Planck Institute for Molecular Genetics, Berlin, Germany
Am J Med Genet A 140:496-502. 2006.... - Characterization of a 16 Mb interstitial chromosome 7q21 deletion by tiling path array CGHAndreas Tzschach
Max Planck Institute for Molecular Genetics, Berlin, Germany
Am J Med Genet A 143:333-7. 2007..The absence of limb abnormalities in this patient suggests either a location of the SHFM1 causing factor distal to this deletion, or reduced penetrance of haploinsufficiency of a SHFM1 factor within the deleted interval... - Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardationLars Riff Jensen
Max Planck Institute for Molecular Genetics, Berlin, Germany
Am J Hum Genet 76:227-36. 2005..Our results suggest that JARID1C mutations are a relatively common cause of XLMR and that this gene might play an important role in human brain function... - Characterization of a 5.3 Mb deletion in 15q14 by comparative genomic hybridization using a whole genome "tiling path" BAC array in a girl with heart defect, cleft palate, and developmental delayFikret Erdogan
Max Planck Institute for Molecular Genetics, Berlin, Germany
Am J Med Genet A 143:172-8. 2007.... - Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardationJiong Tao
Max Planck Institute for Molecular Genetics, Berlin, Germany
Am J Hum Genet 75:1149-54. 2004..In view of the overlapping phenotypic spectrum of CDKL5 and MECP2 mutations, it is tempting to speculate that these two genes play a role in a common pathogenic process... - cDNA cloning and characterization of the human THRAP2 gene which maps to chromosome 12q24, and its mouse ortholog Thrap2Luciana Musante
Max Planck Institute for Molecular Genetics, Ihnestrasse 73, D 14195 Berlin, Germany
Gene 332:119-27. 2004..This complex is involved in transcriptional regulation and is believed to serve as adapting interface between regulatory proteins bound to specific DNA sequences and RNA polymerase II... - Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1Lars R Jensen
Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany
Eur J Hum Genet 19:717-20. 2011..For four mutations affecting ATRX (p.1761M>T), PQBP1 (p.155R>X) and SLC6A8 (p.390P>L and p.477S>L), we provide evidence for a functional involvement of these changes in the aetiology of intellectual disability... - A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndromeBartlomiej Budny
Max Planck Institute for Molecular Genetics, Ihnestr 73, 14195, Berlin, Germany
Hum Genet 120:171-8. 2006..This family broadens the phenotypic spectrum of OFD1 mutations in an unexpected way and sheds light on the complexity of the underlying disease mechanisms... - Novel JARID1C/SMCX mutations in patients with X-linked mental retardationAndreas Tzschach
Max Planck Institute for Molecular Genetics, Berlin, Germany
Hum Mutat 27:389. 2006..In contrast to other XLMR genes in which mutations were found only in single or very few families, JARID1C appears to be one of the more frequently mutated genes in this disorder... - Characterization of an interstitial 4q32 deletion in a patient with mental retardation and a complex chromosome rearrangementAndreas Tzschach
Max Planck Institute for Molecular Genetics, Human Molecular Genetics, Berlin, Germany
Am J Med Genet A 152:1008-12. 2010..Reports of patients with overlapping deletions will be needed to elucidate the role of individual genes and to establish genotype-phenotype correlations... - Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardationKristine Freude
Max Planck Institute for Molecular Genetics, Berlin, Germany
Am J Hum Genet 75:305-9. 2004..FTSJ1 protein is a homolog of Escherichia coli RNA methyltransferase FtsJ/RrmJ and may play a role in the regulation of translation. Further studies aim to elucidate the function of human FTSJ1 and its role during brain development... - Disruption of the TCF4 gene in a girl with mental retardation but without the classical Pitt-Hopkins syndromeVera M Kalscheuer
Max Planck Institute for Molecular Genetics, Berlin, Germany
Am J Med Genet A 146:2053-9. 2008..Thus, the possibility exists that more patients with a less severe encephalopathy carry a mutation in this gene... - Haploinsufficiency of novel FOXG1B variants in a patient with severe mental retardation, brain malformations and microcephalySarah A Shoichet
Max Planck Institute for Molecular Genetics, Ihnestrasse 73, 14195 Berlin, Germany
Hum Genet 117:536-44. 2005.... - A novel nonsense mutation in TUSC3 is responsible for non-syndromic autosomal recessive mental retardation in a consanguineous Iranian familyMasoud Garshasbi
Department Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany
Am J Med Genet A 155:1976-80. 2011..This argues for a more prominent role of TUSC3 in the etiology of this genetically heterogeneous disorder as compared to most of the other so far identified ARMR genes... - Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardationVera M Kalscheuer
Max Planck Institute for Molecular Genetics, Ihnestrasse 73, D 14195 Berlin, Germany
Nat Genet 35:313-5. 2003..PQBP1 has previously been implicated in the pathogenesis of polyglutamine expansion diseases. Our findings link this gene to XLMR and shed more light on the pathogenesis of this common disorder... - Molecular cytogenetic analysis of a de novo interstitial chromosome 10q22 deletionAndreas Tzschach
Max Planck Institute for Molecular Genetics, Berlin, Germany
Am J Med Genet A 140:1108-10. 2006..6 Mb) of the deletion was determined by fluorescence in situ hybridization (FISH) using 16 YAC and BAC clones. The clinical features in our patient are remarkably similar to the previously reported patient with a 10q22.2 deletion... - Common pathological mutations in PQBP1 induce nonsense-mediated mRNA decay and enhance exclusion of the mutant exonLuciana Musante
Max Planck Institute for Molecular Genetics, D 14195 Berlin, Germany
Hum Mutat 31:90-8. 2010..Our study provides significant insight into the early events contributing to the pathogenesis of the PQBP1 related XLMR disease... - Duplication of the MID1 first exon in a patient with Opitz G/BBB syndromeJennifer Winter
Max Planck Institute for Molecular Genetics, Berlin, Germany
Hum Genet 112:249-54. 2003..This duplication introduces a premature termination codon. In addition, we could significantly lower the threshold for mutation detection on the DNA level by combining SSCP analysis with DHPLC technology... - Disruption of Netrin G1 by a balanced chromosome translocation in a girl with Rett syndromeIsabella Borg
Max Planck Institute for Molecular Genetics, Berlin, Germany
Eur J Hum Genet 13:921-7. 2005..Our results suggest that the central nervous system is sensitive to NTNG1 expression levels and that NTNG1 is a novel candidate disease gene for RTT... - Chromosome aberrations involving 10q22: report of three overlapping interstitial deletions and a balanced translocation disrupting C10orf11Andreas Tzschach
Department Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany
Eur J Hum Genet 18:291-5. 2010..This finding suggests that haploinsufficiency of C10orf11 contributes to the cognitive defects in 10q22 deletion patients... - Heterotaxy and cardiac defect in a girl with chromosome translocation t(X;1)(q26;p13.1) and involvement of ZIC3Andreas Tzschach
Department Ropers, Max Planck Institute for Molecular Genetics, Ihnestrasse 73, 14195 Berlin, Germany
Eur J Hum Genet 14:1317-20. 2006..Mutations in ZIC3 are associated with situs ambiguus and cardiac defects predominantly in males. This is the first report of a live born girl with an X-autosome translocation involving the ZIC3 region... - Characterization of interstitial Xp duplications in two families by tiling path array CGHAndreas Tzschach
Max Planck Institute for Molecular Genetics, Berlin, Germany
Am J Med Genet A 146:197-203. 2008..These comprise known mental retardation genes such as MAOA, NDP, TM4SF2, NDP, RSK2, and CDKL5. Duplication of MAOA will be discussed as a possible cause of obesity... - Blepharophimosis-ptosis-epicanthus inversus syndrome in a girl with chromosome translocation t(2;3)(q33;q23)Andreas Tzschach
Max Planck Institute for Molecular Genetics, Berlin, Germany
Ophthalmic Genet 29:37-40. 2008.... - Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardationOlivier Hagens
Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Ihnestrasse 73, 14195, Berlin, Germany
Hum Genet 118:578-90. 2006..Our results suggest that hKIAA1202 may be important in cognitive function and/or development... - A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGHEva Klopocki
Institute of Medical Genetics, Charite Universitatsmedizin Berlin, Campus Virchow Klinikum, Augustenburger Platz 1, 13353, Berlin, Germany
Eur J Pediatr 167:903-8. 2008..We present a genotype-phenotype correlation and comparison with patients from the literature... - X-linked mental retardation: a comprehensive molecular screen of 47 candidate genes from a 7.4 Mb interval in Xp11Lars Riff Jensen
Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany
Eur J Hum Genet 15:68-75. 2007..We show that many of the studied genes are unlikely to play a major role in MRX. This information will help to avoid duplication of efforts in the ongoing endeavor to unravel the molecular causes of MRX... - Breakpoint analysis of balanced chromosome rearrangements by next-generation paired-end sequencingWei Chen
Max Planck Institute for Molecular Genetics, Berlin, Germany
Eur J Hum Genet 18:539-43. 2010..Our results show the feasibility of paired-end sequencing of systematic breakpoint mapping and gene finding in patients with disease-associated chromosome rearrangements... - Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardationVera M Kalscheuer
Max Planck Institute for Molecular Genetics, Berlin, Germany
Am J Hum Genet 72:1401-11. 2003.... - Chromosome deletions in 13q33-34: report of four patients and review of the literatureJoanna Walczak-Sztulpa
Max Planck Institute for Molecular Genetics, Berlin, Germany
Am J Med Genet A 146:337-42. 2008..Molecular cytogenetic definition of a common deleted region in all patients suggests ARHGEF7 as a candidate gene for mental retardation and microcephaly... - Truncation of the CNS-expressed JNK3 in a patient with a severe developmental epileptic encephalopathySarah A Shoichet
Max Planck Institute for Molecular Genetics, Ihnestrasse 73, 14195, Berlin, Germany
Hum Genet 118:559-67. 2006..These interactions are likely affected by a truncated JNK3 protein, and thereby provide an explanation for the link between alterations in MAP kinase signal transduction and brain disorders... - Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndromeLuciana Musante
Max Planck Institute for Molecular Genetics, Berlin, Germany
Eur J Hum Genet 11:201-6. 2003..Five of the mutations were recurrent. Interestingly, no mutations in the PTPN11 gene were detected in five additional patients with cardio-facio-cutaneous (CFC) syndrome, which shows clinical similarities to NS... - Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspotsAndreas Walter Kuss
Max Planck Institute for Molecular Genetics, Ihnestr 73, 14195 Berlin, Germany
Hum Genet 129:141-8. 2011..These findings will be instrumental in the identification of the underlying genes... - Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 geneJoanna Walczak-Sztulpa
Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin 14195, Germany
Am J Hum Genet 86:949-56. 2010..Still, by identifying CED as a ciliary disorder, our study suggests that the causative mutations in the unresolved cases most likely affect primary cilia function too... - Establishment of a mouse model with misregulated chromosome condensation due to defective Mcph1 functionMarc Trimborn
Institute for Medical Genetics, Charite Universitatsmedizin Berlin, Berlin, Germany
PLoS ONE 5:e9242. 2010..To the best of our knowledge this represents the first mammalian transgenic model displaying a defect in mitotic chromosome condensation and is also the first mouse model for impaired Mcph1-function... - A novel 8 Mb interstitial deletion of chromosome 8p12-p21.2Eva Klopocki
Institute of Medical Genetics, Charite Universitatsmedizin Berlin, Berlin, Germany
Am J Med Genet A 140:873-7. 2006..This is the first report of array-CGH analysis of an interstitial deletion at chromosome 8p... - Ca++/CaMKII switches nociceptor-sensitizing stimuli into desensitizing stimuliTim Hucho
Max Planck Institute for Molecular Genetics, Berlin, Germany Universitätsklinikum Köln, Klinik fur Anasthesiologie und Operative Intensivmedizin, Koln, Germany
J Neurochem 123:589-601. 2012..Thus, we conclude that the net effect of signaling in nociceptors is defined by the context of the individual cell's signaling history... - A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5CLars R Jensen
Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany
Pathogenetics 3:2. 2010..Specific transcriptional targets of KDM5C, however, are still unknown and the effects of KDM5C deficiency on gene expression have not yet been investigated... - Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndromeEva Klopocki
Institut fur Medizinische Genetik, Charite Universitatsmedizin Berlin, Berlin, Germany
Am J Hum Genet 80:232-40. 2007..We hypothesize that TAR syndrome is associated with a deletion on chromosome 1q21.1 but that the phenotype develops only in the presence of an additional as-yet-unknown modifier (mTAR)... - Identification of candidate genes for sporadic amyotrophic lateral sclerosis by array comparative genomic hybridizationSarah A Shoichet
Max Planck Institute for Molecular Genetics, Berlin, Germany
Amyotroph Lateral Scler 10:162-9. 2009..Analysis of such aberrations serves as a starting point in deciphering the aetiology of this complex disease, given that affected genes can be considered candidates for influencing disease susceptibility... - Characterization of FBX25, encoding a novel brain-expressed F-box proteinOlivier Hagens
Max Planck Institute for Molecular Genetics, Department of Human Molecular Genetics, Ihnestr 73, D 14195 Berlin, Germany
Biochim Biophys Acta 1760:110-8. 2006..Interestingly, aberrations in the ubiquitin pathway have been linked to neurological conditions... - Choroideremia gene product affects trophoblast development and vascularization in mouse extra-embryonic tissuesWei Shi
Max Planck Institute for Molecular Genetics, Berlin Dahlem, Germany
Dev Biol 272:53-65. 2004..spretus X-chromosome rather than a modifier effect. Our results demonstrate that Chm is essential for diploid trophoblast development and plays a role in the vascularization in placenta and yolk sac... - A defect in the TUSC3 gene is associated with autosomal recessive mental retardationMasoud Garshasbi
Max Planck Institute for Molecular Genetics, D 14195 Berlin, Germany
Am J Hum Genet 82:1158-64. 2008..TUSC3 is only the fifth gene implicated in NS-ARMR and the first for which mutations have been reported in more than one family... - TRPV1 acts as a synaptic protein and regulates vesicle recyclingChandan Goswami
Signal Transduction in Pain and Mental Retardation, Department for Molecular Human Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany
J Cell Sci 123:2045-57. 2010..These data suggest that TRPV1 is involved in processes such as neuronal network formation, synapse modulation and release of synaptic transmitters... - A balanced chromosomal translocation disrupting ARHGEF9 is associated with epilepsy, anxiety, aggression, and mental retardationVera M Kalscheuer
Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany
Hum Mutat 30:61-8. 2009..These results suggest that collybistin has a key role in membrane trafficking of gephyrin and selected GABA(A) receptor subtypes involved in epilepsy, anxiety, aggression, insomnia, and learning and memory... - A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardationMohammad Mahdi Motazacker
Max Planck Institute for Molecular Genetics, Charite Universitatsmedizin Berlin, Berlin, Germany
Am J Hum Genet 81:792-8. 2007.... - High prevalence of SLC6A8 deficiency in X-linked mental retardationEfraim H Rosenberg
Department of Clinical Chemistry, Metabolic Unit, VU University Medical Center, Amsterdam, The Netherlands
Am J Hum Genet 75:97-105. 2004..M560V). Our data indicate that the frequency of SLC6A8 mutations in the XLMR population is close to that of CGG expansions in FMR1, the gene responsible for fragile-X syndrome... - X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin familyFrederic Laumonnier
INSERM U619 Génétique de l Autisme et de la Déficience Mentale, CHU Bretonneau, Tours, France
Am J Hum Genet 74:552-7. 2004.... - Inv(X)(p21.1;q22.1) in a man with mental retardation, short stature, general muscle wasting, and facial dysmorphism: clinical study and mutation analysis of the NXF5 geneSuzanna G M Frints
Human Genome Laboratory and Flanders Interuniversity Institute for Biotechnology, University of Leuven, Leuven, Belgium
Am J Med Genet A 119:367-74. 2003..Therefore, mutation screening of the NXF gene family in phenotypically identical patients is recommended... - FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardationIlaria Meloni
Medical Genetics, Department of Molecular Biology, University of Siena, Italy
Nat Genet 30:436-40. 2002..FACL4 is the first gene shown to be involved in nonspecific mental retardation and fatty-acid metabolism... - Ulnar-mammary syndrome with dysmorphic facies and mental retardation caused by a novel 1.28 Mb deletion encompassing the TBX3 geneEva Klopocki
Institute of Medical Genetics, Charite Universitatsmedizin Berlin, Campus Virchow Klinikum, Augustenburger Platz 1, 13353 Berlin, Germany
Eur J Hum Genet 14:1274-9. 2006..We suggest that the UMS phenotype in conjunction with the characteristic facial changes and mental retardation observed in our patient is owing to the deletion of TBX3 and the involvement of neighbouring genes... - Screening of 20 patients with X-linked mental retardation using chromosome X-specific array-MAPHLudmila Kousoulidou
Department of Cytogenetics, The Cyprus Institute of Neurology and Genetics, 1683 Nicosia, Cyprus
Eur J Med Genet 50:399-410. 2007.... - Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophreniaGeorge Kirov
Department of Psychological Medicine, Cardiff University, Henry Wellcome Building, Heath Park, Cardiff CF14 4XN, UK
Hum Mol Genet 17:458-65. 2008..Both genes have been affected by CNVs in patients with autism and mental retardation, but neither has been previously implicated in SZ... - Disruption of the CNTNAP2 gene in a t(7;15) translocation family without symptoms of Gilles de la Tourette syndromeJose M Belloso
Department of Cellular and Molecular Medicine, Wilhelm Johannsen Centre for Functional Genome Research, The Panum Institute, University of Copenhagen, Blegdamsvej 3, 2200 KBH N Copenhagen, Denmark
Eur J Hum Genet 15:711-3. 2007..1) in phenotypically normal individuals. The 7q35 breakpoint disrupts the CNTNAP2 gene, indicating that truncation of this gene does not necessarily lead to the symptoms of the complex Gilles de la Tourette syndrome... - Epilepsy and mental retardation limited to females: an under-recognized disorderIngrid E Scheffer
Epilepsy Research Centre, Department of Medicine, University of Melbourne, Heidelberg Repatriation Hospital, Banksia Street, Heidelberg VIC 3081, Australia
Brain 131:918-27. 2008..In single cases, diagnosis will depend on identification of the molecular basis... - Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardationGuy Froyen
Human Genome Laboratory, Department for Molecular and Developmental Genetics, VIB, B 3000 Leuven, Belgium
Am J Hum Genet 82:432-43. 2008..Our findings demonstrate that an increased gene dosage of HSD17B10, HUWE1, or both contribute to the etiology of XLMR and suggest that point mutations in HUWE1 are associated with this disease too... - Loss of SLC38A5 and FTSJ1 at Xp11.23 in three brothers with non-syndromic mental retardation due to a microdeletion in an unstable genomic regionGuy Froyen
Human Genome Laboratory, Department for Molecular and Developmental Genetics, VIB, Leuven, Belgium
Hum Genet 121:539-47. 2007..So far, we have screened a cohort of 300 patients but did not find additional aberrations at the FTSJ1 locus indicating that the frequency is likely to be low... - Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephalyRikke S Møller
Wilhelm Johannsen Centre for Functional Genome Research, Institute of Cellular and Molecular Medicine, University of Copenhagen, Blegdamsvej 3, 2200 Copenhagen N, Denmark
Am J Hum Genet 82:1165-70. 2008..In the present study, we show that truncating mutations of DYRK1A result in a clinical phenotype including microcephaly... - Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortiumArjan P M de Brouwer
Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
Hum Mutat 28:207-8. 2007..Our results show that it is now possible to identify 42% of the genetic defects in non-syndromic and syndromic XLMR families with obligate female carriers... - Formation of higher-order nuclear Rad51 structures is functionally linked to p21 expression and protection from DNA damage-induced apoptosisElke Raderschall
Max Planck Institute of Molecular Genetics, 14195 Berlin, Germany
J Cell Sci 115:153-64. 2002..This mechanism may contribute to a highly effective recombinational DNA repair in cell cycle-arrested cells and protection against DNA damage-induced apoptosis... - A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopiaMette Gilling
Department of Medical Genetics, Wilhelm Johannsen Centre for Functional Genome Research, Institute of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen N, Denmark
Eur J Hum Genet 16:312-9. 2008..Identification of multiple genetic changes in this patient with childhood autism agrees with the most frequently suggested genetic model of ASDs as complex, polygenic disorders... - Four-hundred million years of conserved synteny of human Xp and Xq genes on three Tetraodon chromosomesFrank Grützner
Comparative Genomics Group, Research School of Biological Sciences, Australian National University, Canberra, ACT 2601, Australia
Genome Res 12:1316-22. 2002..Sequence data reported in this paper have been deposited in GenBank and assigned the following accession no: AJ308098.].. - ZNF674: a new kruppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardationDorien Lugtenberg
Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
Am J Hum Genet 78:265-78. 2006..Identification of ZNF674 as the third XLMR gene in this cluster may indicate a common role for these zinc-finger genes that is crucial to human cognitive functioning... - Breakpoint cloning and haplotype analysis indicate a single origin of the common Inv(10)(p11.2q21.2) mutation among northern EuropeansMette Gilling
Wilhelm Johannsen Center for Functional Genome Research, University of Copenhagen, Copenhagen
Am J Hum Genet 78:878-83. 2006..Thus, although considered a common variant, inv(10)(p11.2q21.2) has a single ancestral founder among northern Europeans...