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

Journal article

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.

Authors: Guerrini, R; Shanahan, J; Carrozzo, R; Bonanni, P; Higgs, D

• Publication status: Published
• Journal: Annals of neurology
• Volume: 47
• Issue: 1
• Pages: 117-121
• Publication date: 2000-01-01
• DOI: 10.1002/1531-8249(200001)47:1<117::aid-ana20>3.3.co;2-1
• EISSN: 1531-8249
• ISSN: 0364-5134
• Language: English
• Keywords: Transcription Factors; Middle Aged; Adolescent; Humans; Adult; Intellectual Disability; Mutation; Male; DNA-Binding Proteins; Female; Neuropsychological Tests; Intelligence; Nuclear Proteins; Epilepsy; DNA Helicases; Pedigree