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

Seema Thakur, Mala Ishrie, Renu Saxena, Sumita Danda, Rose Linda, Auro Viswabandya, I. C. Verma

Research output: Contribution to journalArticleAcademicpeer-review

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.

Original languageEnglish
Pages (from-to)483-486
Number of pages4
JournalIndian Journal of Medical Research
Volume134
Issue number10
Publication statusPublished - 1 Oct 2011
Externally publishedYes

Cite this

Thakur, S., Ishrie, M., Saxena, R., Danda, S., Linda, R., Viswabandya, A., & Verma, I. C. (2011). ATR-X syndrome in two siblings with a novel mutation (C.6718C>T mutation in exon 31). Indian Journal of Medical Research, 134(10), 483-486.
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). In: Indian Journal of Medical Research. 2011 ; Vol. 134, No. 10. pp. 483-486.
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Thakur, S, Ishrie, M, Saxena, R, Danda, S, Linda, R, Viswabandya, A & Verma, IC 2011, 'ATR-X syndrome in two siblings with a novel mutation (C.6718C>T mutation in exon 31)' Indian Journal of Medical Research, vol. 134, no. 10, pp. 483-486.

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.

In: Indian Journal of Medical Research, Vol. 134, No. 10, 01.10.2011, p. 483-486.

Research output: Contribution to journalArticleAcademicpeer-review

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T1 - ATR-X syndrome in two siblings with a novel mutation (C.6718C>T mutation in exon 31)

AU - Thakur, Seema

AU - Ishrie, Mala

AU - Saxena, Renu

AU - Danda, Sumita

AU - Linda, Rose

AU - Viswabandya, Auro

AU - Verma, I. C.

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AB - 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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KW - ATR-X

KW - Developmental delay

KW - X-inactivation

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Thakur S, Ishrie M, Saxena R, Danda S, Linda R, Viswabandya A et al. ATR-X syndrome in two siblings with a novel mutation (C.6718C>T mutation in exon 31). Indian Journal of Medical Research. 2011 Oct 1;134(10):483-486.