학술논문
Genotype-phenotype associations for ARXgene duplication in X-linked mental retardation
Document Type
Article
Author
Source
Neurology (Ovid); December 2006, Vol. 67 Issue: 11 p2073-2075, 3p
Subject
Language
ISSN
00283878; 1526632X
Abstract
We screened 165 mentally retarded patients for ARXgene 428-451 base pair (bp) duplication. Eighteen individuals from five families were found to carry the duplication, and all had intellectual impairment. Twelve presented with focal hand dystonia, while six patients had EEG abnormalities including seizures. Other symptoms included speech difficulties (4/18), testis enlargement (4/18), lower limb spasticity or foot dystonia (4/18), and facial telangiectasia (3/18). These features confirm the pleiotropic effect of the duplication.