A Child with a Novel de novo Mutation in the Aristaless Domain of the Aristaless-Related Homeobox (ARX) Gene Presenting with Ambiguous Genitalia and Psychomotor Delay

被引：8

作者：

Sirisena, Nirmala Dushyanthi ^{[1
]}

McElreavey, Kenneth ^{[3
]}

Bashamboo, Anu ^{[3
]}

de Silva, K. Shamya H. ^{[2
]}

Jayasekara, Rohan W. ^{[1
]}

Dissanayake, Vajira H. W. ^{[1
]}

机构：

[1] Univ Colombo, Fac Med, Human Genet Unit, Colombo 8, Sri Lanka

[2] Univ Colombo, Fac Med, Dept Paediat, Colombo 8, Sri Lanka

[3] Inst Pasteur, Paris, France

来源：

SEXUAL DEVELOPMENT | 2014年 / 8卷 / 04期

关键词：

Ambiguous genitalia; ARX; Disorders of sex development; Exome sequencing; Undervirilization; ABNORMAL GENITALIA; CORPUS-CALLOSUM; EPILEPSY; DISORDERS; LEADS; XLAG;

D O I：

10.1159/000365458

中图分类号：

Q [生物科学];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

The objective of this study was to identify disease-causing mutations in a Sri Lankan male child presenting with ambiguous genitalia and psychomotor delay using the exome sequencing approach. A novel mutation in the aristaless-related honneobox (ARX) gene causing a hemizygous nucleotide substitution in exon 5 was identified (NM_139058.2 (ARX): c.1614G>T; p.K538N). This change causes a nonsynonymous substitution in the aristaless domain within the ARX protein which is predicted to be deleterious. This is the first reported case of ambiguous genitalia and psychomotor delay associated with this novel missense mutation within the ARX protein, and it highlights the value of exome sequencing even in sporadic cases. (C) 2014 S. Karger AG, Basel

引用

页码：156 / 159

页数：4