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

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 broth...

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Detalles Bibliográficos
Autores principales: Thakur, Seema, Ishrie, Mala, Saxena, Renu, Danda, Sumita, Linda, Rose, Viswabandya, Auro, Verma, I.C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2011
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3237247/
https://www.ncbi.nlm.nih.gov/pubmed/22089611
Descripción
Sumario: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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