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
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author Thakur, Seema
Ishrie, Mala
Saxena, Renu
Danda, Sumita
Linda, Rose
Viswabandya, Auro
Verma, I.C.
author_facet Thakur, Seema
Ishrie, Mala
Saxena, Renu
Danda, Sumita
Linda, Rose
Viswabandya, Auro
Verma, I.C.
author_sort Thakur, Seema
collection PubMed
description 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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spelling pubmed-32372472011-12-15 ATR-X syndrome in two siblings with a novel mutation (c.6718C>T mutation in exon 31) Thakur, Seema Ishrie, Mala Saxena, Renu Danda, Sumita Linda, Rose Viswabandya, Auro Verma, I.C. Indian J Med Res Original Article 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. Medknow Publications & Media Pvt Ltd 2011-10 /pmc/articles/PMC3237247/ /pubmed/22089611 Text en Copyright: © The Indian Journal of Medical Research http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Original Article
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)
title ATR-X syndrome in two siblings with a novel mutation (c.6718C>T mutation in exon 31)
title_full ATR-X syndrome in two siblings with a novel mutation (c.6718C>T mutation in exon 31)
title_fullStr ATR-X syndrome in two siblings with a novel mutation (c.6718C>T mutation in exon 31)
title_full_unstemmed ATR-X syndrome in two siblings with a novel mutation (c.6718C>T mutation in exon 31)
title_short ATR-X syndrome in two siblings with a novel mutation (c.6718C>T mutation in exon 31)
title_sort atr-x syndrome in two siblings with a novel mutation (c.6718c>t mutation in exon 31)
topic Original Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3237247/
https://www.ncbi.nlm.nih.gov/pubmed/22089611
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