ATR-X syndrome in two siblings with a novel mutation (c.6718C>T mutation in exon 31).
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Date
2011-10
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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
Alpha-thalassaemia, ATR-X, developmental delay, X-inactivation
Citation
Thakur Seema, Ishrie Mala, Saxena Renu, Danda Sumita, Linda Rose, Viswabandya Auro, Verma I C. ATR-X syndrome in two siblings with a novel mutation (c.6718C>T mutation in exon 31). Indian Journal of Medical Research. 2011 Oct; 134(4): 483-486.