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  Novel JARID1C/SMCX mutations in patients with X-linked mental retardation

Tzschach, A., Lenzner, S., Moser, B., Reinhardt, R., Chelly, J., Fryns, J.-P., et al. (2006). Novel JARID1C/SMCX mutations in patients with X-linked mental retardation. Human Mutation, 27(4), 389-389. doi:10.1002/humu.9420.

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Genre: Zeitschriftenartikel
Alternativer Titel : Hum Mutat

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Tzschach, Andreas1, Autor           
Lenzner, Steffen2, Autor
Moser, Bettina2, Autor
Reinhardt, Richard3, Autor           
Chelly, Jamel, Autor
Fryns, Jean-Pierre, Autor
Kleefstra, Tjitske, Autor
Raynaud, Martine, Autor
Turner, Gillian, Autor
Ropers, Hans-Hilger1, Autor           
Kuss, Andreas4, Autor           
Jensen, Lars Riff5, Autor           
Affiliations:
1Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433549              
2Max Planck Society, ou_persistent13              
3High Throughput Technologies, Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433552              
4Familial Cognitive Disorders (Luciana Musante), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479644              
5Dept. of Computational Molecular Biology (Head: Martin Vingron), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433549              

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Schlagwörter: JARID1C • SMCX • X-linked mental retardation
 Zusammenfassung: X-linked mental retardation (XLMR) is a heterogeneous disorder that affects approximately 2 in 1000 males. JARID1C/SMCX is relatively new among the known XLMR genes, and seven different mutations have been identified previously in this gene [Jensen LR et al., Am. J. Hum. Genet. 76:227-236, 2005]. Here, we report five novel JARID1C mutations in five XLMR families. The changes comprise one nonsense mutation (p.Arg332X) and four missense mutations (p.Asp87Gly; p.Phe642Leu; p.Arg750Trp; p.Tyr751Cys) affecting evolutionarily conserved amino acids. The degree of mental retardation in the affected males ranged from mild to severe, and some patients suffered from additional disorders such as epilepsy, short stature, or behavioral problems. This study brings the total number of reported JARID1C mutations to twelve. 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.

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Sprache(n): eng - English
 Datum: 2006-03-15
 Publikationsstatus: Erschienen
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 Identifikatoren: eDoc: 305408
DOI: 10.1002/humu.9420
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Titel: Human Mutation
  Alternativer Titel : Hum Mutat
Genre der Quelle: Zeitschrift
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Seiten: - Band / Heft: 27 (4) Artikelnummer: - Start- / Endseite: 389 - 389 Identifikator: ISSN: 1059-7794