Article

ATR-X syndrome in two siblings with a novel mutation (c.6718C>T mutation in exon 31).

Department of Genetic Medicine, Sir Ganga Ram Hospital, New Delhi, India.
The Indian journal of medical research (impact factor: 1.84). 10/2011; 134:483-6. pp.483-6
Source: PubMed

ABSTRACT ATR-X syndrome is an X-linked mental retardation syndrome characterized by mental retardation, alpha thalassaemia and distinct facial features which include microcephaly, frontal hair upsweep, epicanthic folds, small triangular nose, midface hypoplasia and carp-shaped mouth. Here we report two brothers with clinical features of ATR-X syndrome, in whom a novel missense (C>T) mutation was identified in exon 31 of the ATRX gene.

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Keywords

ATR-X syndrome
 
ATRX gene
 
clinical features
 
distinct facial features
 
epicanthic folds
 
include microcephaly
 
midface hypoplasia