title: 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.affiliation: Institute of Child Neurology and Psychiatry, University of Pisa, Italy.
authors.forename: R
authors.initials: R
authors.lastname: Guerrini
authors.forename: J L
authors.initials: JL
authors.lastname: Shanahan
authors.forename: R
authors.initials: R
authors.lastname: Carrozzo
authors.forename: P
authors.initials: P
authors.lastname: Bonanni
authors.forename: D R
authors.initials: DR
authors.lastname: Higgs
authors.forename: R J
authors.initials: RJ
authors.lastname: Gibbons
mesh_terms: D000293:Adolescent; D000328:Adult; D004265:DNA Helicases; D004268:DNA-Binding Proteins / Q000235:genetics*; D004827:Epilepsy / Q000235:genetics*; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics* / Q000523:psychology; D007360:Intelligence; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D009483:Neuropsychological Tests; D009687:Nuclear Proteins; D010375:Pedigree; D014157:Transcription Factors / Q000235:genetics*; D000075924:X-linked Nuclear Protein
chemical_list: D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; D014157:Transcription Factors; D004265:DNA Helicases; C092332:ATRX protein, human; D000075924:X-linked Nuclear Protein