A nonsense mutation of the ATRX gene causing mild mental retardation and epilepsy.
case_report · Level V
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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.
Medical subject headings
- DNA Helicases
- DNA-Binding Proteins
- Epilepsy
- Intellectual Disability
- Mutation
- Nuclear Proteins
- Transcription Factors