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. 2000 Jan;47(1):117-21.

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

R Guerrini  1 , J L Shanahan, R Carrozzo, P Bonanni, D R Higgs, R J Gibbons
Affiliations
  • PMID: 10632111

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

R Guerrini et al. Ann Neurol. 2000 Jan.

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.

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