A nonsense mutation of the ATRX gene causing mild mental retardation and epilepsy
R Guerrini, JL Shanahan, R Carrozzo… - Annals of …, 2000 - Wiley Online Library
Annals of neurology, 2000•Wiley Online Library
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 …
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 …
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. Ann Neurol 2000; 47:117–121
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