Zinc finger 81 (ZNF81) mutations associated with X-linked mental retardation
| Autor: | Claude Moraine, Jamel Chelly, Astrid R. Oudakker, Tjitske Kleefstra, H Van Bokhoven, M. J. G. Banning, Erik A. Sistermans, Vera M. Kalscheuer, Helger G. Yntema, B.C.J. Hamel, Irene M. Janssen, W. N. Nillesen, L.B.A. de Vries, J. P. Fryns, Hans-Hilger Ropers |
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| Přispěvatelé: | Human genetics, Amsterdam Reproduction & Development (AR&D) |
| Rok vydání: | 2004 |
| Předmět: |
medicine.medical_specialty
DNA Mutational Analysis Molecular Sequence Data Population Kruppel-Like Transcription Factors Biology medicine.disease_cause Translocation Genetic Cell Line MECP2 Molecular genetics Genetics medicine Neurosensory disorders [UMCN 3.3] Humans Genetic Predisposition to Disease RNA Messenger education Cerebellar hypoplasia Genetics (clinical) X chromosome Chromosomes Human X Mutation education.field_of_study Infant Newborn Chromosome Mapping Exons medicine.disease Phenotype Introns DNA-Binding Proteins Developmental disorder Mental Retardation X-Linked Female Letter to JMG Transcription Factors |
| Zdroj: | Journal of Medical Genetics, 41, 394-9 Journal of Medical Genetics, 41(5), 394-399. BMJ Publishing Group Scopus-Elsevier Journal of Medical Genetics, 41, 5, pp. 394-9 Kleefstra, T, Yntema, H G, Oudakker, A R, Banning, M J G, Kalscheuer, V M, Chelly, J, Moraine, C, Ropers, H H, Fryns, J P, Janssen, I M, Sistermans, E A, Nillesen, W N, De Vries, L B A, Hamel, B C J & Van Bokhoven, H 2004, ' Zinc finger 81 (ZNF81) mutations associated with X-linked mental retardation ', Journal of Medical Genetics, vol. 41, no. 5, pp. 394-399 . https://doi.org/10.1136/jmg.2003.016972 |
| ISSN: | 0022-2593 |
| DOI: | 10.1136/jmg.2003.016972 |
| Popis: | X-linked mental retardation (XLMR) has a prevalence of 2.6 cases per 1000 population, accounting for over 10% of all cases of mental retardation. Clinically, XLMR exists in syndromic (MRXS) and non-syndromic (MRX) forms, that is without other distinguishing features. Non-syndromic X-linked mental retardation (MRX) is a highly heterogeneous group of conditions in which mental retardation (MR) is the only consistent clinical feature in patients. This in contrast to syndromic forms of X-linked mental retardation (MRXS), where MR is associated with recognisable clinical signs such as congenital malformations, neurological features, or metabolic disturbances. Identifying novel genes that are responsible for MRX is difficult due to the heterogeneity of this disorder. At present 30 genes have been identified as playing a role in MRXS. However in MRX, only 15 genes are known to be involved accounting for less than one-fifth of all MRX.1–6 The recent observations that RSK2, MECP2 , and ARX play a role in both syndromic and non-syndromic forms of XLMR,7–10 suggest that a molecular basis to strictly separate these two forms is not always present. In addition, careful clinical re-examination of patients with an OPHN1 gene mutation has revealed distinctive phenotypic hallmarks, such as cerebellar hypoplasia, in patients who were previously classified as non-syndromic.11,12 The frequency of causative mutations in any of the 15 MRX genes known today appears to be very low, so in the majority of patients with MRX the genetic cause is still not known. It has been suggested that up to 100 different genes might be involved in MRX.1–4 Seven of the 15 genes have been cloned on the basis of their disruption by chromosomal rearrangements in mentally retarded patients. Recently, it has been predicted that approximately 30% of all mutations underlying MRX are located in the … |
| Databáze: | OpenAIRE |
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