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Ann Neurol. 2000 Jan;47(1):117-21.

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

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Institute of Child Neurology and Psychiatry, University of Pisa, Italy.


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.

[Indexed for MEDLINE]

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