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A nonsense mutation of the ATRX gene causing mild mental retardation and epilepsy
Author(s) -
Guerrini Renzo,
Shanahan Jennifer L.,
Carrozzo Romeo,
Bonanni Paolo,
Higgs Douglas R.,
Gibbons Richard J.
Publication year - 2000
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/1531-8249(200001)47:1<117::aid-ana20>3.0.co;2-a
Subject(s) - atrx , nonsense , nonsense mutation , epilepsy , mutation , genetics , gene , gene mutation , medicine , biology , psychiatry , missense mutation
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