一名儿童在无翅相关同源框（ARX）基因的无翅结构域发生了新的从头突变，表现为生殖器模糊和精神运动发育迟缓。

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.

作者信息

Sirisena Nirmala Dushyanthi, McElreavey Kenneth, Bashamboo Anu, de Silva K Shamya H, Jayasekara Rohan W, Dissanayake Vajira H W

机构信息

Human Genetics Unit, University of Colombo, Colombo, Sri Lanka.

出版信息

Sex Dev. 2014;8(4):156-9. doi: 10.1159/000365458. Epub 2014 Jul 25.

DOI:10.1159/000365458

PMID:25074490

Abstract

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 homeobox (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.

摘要

本研究的目的是采用外显子组测序方法，在一名患有生殖器模糊和精神运动发育迟缓的斯里兰卡男童中鉴定致病突变。在无尾相关同源框（ARX）基因中发现了一个新的突变，该突变导致外显子5中的半合子核苷酸替换（NM_139058.2（ARX）：c.1614G>T；p.K538N）。这种变化导致ARX蛋白无尾结构域中的非同义替换，预计这是有害的。这是首次报道的与ARX蛋白内这种新的错义突变相关的生殖器模糊和精神运动发育迟缓病例，它突出了外显子组测序即使在散发病例中的价值。