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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.


Journal article


Ann Neurol

Publication Date





117 - 121


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