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

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.

• Authors: R Guerrini, J L Shanahan, R Carrozzo, P Bonanni, D R Higgs, R J Gibbons
• Journal: Annals of neurology (Ann Neurol) Vol. 47 Issue 1 Pg. 117-21 (Jan 2000) ISSN: 0364-5134 [Print] United States
• PMID: 10632111 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• DNA-Binding Proteins
• Nuclear Proteins
• Transcription Factors
• DNA Helicases
• ATRX protein, human
• X-linked Nuclear Protein

Topics

• Adolescent
• Adult
• DNA Helicases
• DNA-Binding Proteins (genetics)
• Epilepsy (genetics)
• Female
• Humans
• Intellectual Disability (genetics, psychology)
• Intelligence
• Male
• Middle Aged
• Mutation (genetics)
• Neuropsychological Tests
• Nuclear Proteins
• Pedigree
• Transcription Factors (genetics)
• X-linked Nuclear Protein