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

*Corresponding author for this work

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.