A nonsense mutation of the ATRX gene causing mild mental retardation and epilepsy

Renzo Guerrini, Jennifer L. Shanahan, Romeo Carrozzo, Paolo Bonanni, Douglas R. Higgs, Richard J. Gibbons

Research output: Contribution to journalArticle

Abstract

Mutations in the X-encoded gene ATRX are known to give rise to profound syndromal mental retardation (MR). Here, we describe a pedigree, including 4 affected family members with a 324C→T nonsense mutation in the ATRX gene. Although 2 patients have moderate to profound MR and the typical facial features of ATR-X syndrome, the other 2 patients presented with mild MR and epilepsy but without the characteristic facial dysmorphism. Mutations in the ATRX gene should be considered as a cause of mild MR in male patients lacking specific diagnostic features.

Original languageEnglish
Pages (from-to)117-121
Number of pages5
JournalAnnals of Neurology
Volume47
Issue number1
DOIs
Publication statusPublished - 2000

ASJC Scopus subject areas

  • Neuroscience(all)

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