Title: Novel JARID1C/SMCX mutations in patients with X-linked mental retardation
Authors: Tzschach, Andreas ×
Lenzner, Steffen
Moser, Bettina
Reinhardt, Richard
Chelly, Jamel
Fryns, Jean-Pierre
Kleefstra, Tjitske
Raynaud, Martine
Turner, Gillian
Ropers, Hans-Hilger
Kuss, Andreas
Jensen, Lars Riff #
Issue Date: Mar-2006
Publisher: John Wiley & Sons, Inc.
Series Title: Human Mutation vol:27 issue:4 pages:389-390
Abstract: 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.
ISSN: 1059-7794
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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