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

Thakur, SeemaIshrie, MalaSaxena, RenuDanda, SumitaLinda, RoseViswabandya, AuroVerma, I C2012-01-102012-01-102011-10Thakur 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.http://imsear.searo.who.int/handle/123456789/136348ATR-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.enAlpha-thalassaemiaATR-Xdevelopmental delayX-inactivationDNA Helicases --geneticsExons --geneticsHumansInfantMaleMental Retardation, X-Linked --geneticsMutation, MissenseNuclear Proteins --geneticsSiblingsalpha-Thalassemia --geneticsATR-X syndrome in two siblings with a novel mutation (c.6718C>T mutation in exon 31).Article