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

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 journal › Article › Academic › peer-review

4 Citations (Scopus)

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 language	English
Pages (from-to)	483-486
Number of pages	4
Journal	Indian journal of medical research
Volume	134
Issue number	10
Publication status	Published - 1 Oct 2011
Externally published	Yes

Keywords

ATR-X
Alpha-thalassaemia
Developmental delay
X-inactivation

Cite this

@article{f99d210e52b24ffc849785c18b36552e,

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

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.",

keywords = "ATR-X, Alpha-thalassaemia, Developmental delay, X-inactivation",

author = "Seema Thakur and Mala Ishrie and Renu Saxena and Sumita Danda and Rose Linda and Auro Viswabandya and Verma, {I. C.}",

year = "2011",

month = oct,

day = "1",

language = "English",

volume = "134",

pages = "483--486",

journal = "Indian journal of medical research",

issn = "0971-5916",

publisher = "Indian Council of Medical Research",

number = "10",

}

TY - JOUR

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.

PY - 2011/10/1

Y1 - 2011/10/1

N2 - 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.

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.

KW - ATR-X

KW - Alpha-thalassaemia

KW - Developmental delay

KW - X-inactivation

UR - http://www.scopus.com/inward/record.url?scp=80455127459&partnerID=8YFLogxK

M3 - Article

C2 - 22089611

SN - 0971-5916

VL - 134

SP - 483

EP - 486

JO - Indian journal of medical research

JF - Indian journal of medical research

IS - 10

ER -

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

Abstract

Keywords

Other files and links

Cite this