中国当代儿科杂志2016，Vol.18Issue(11)：1136-1140,5.DOI:10.7499/j.issn.1008-8830.2016.11.016
1个X-连锁鱼鳞病家系的基因突变鉴定与产前诊断
Identification of gene mutation and prenatal diagnosis in a family with X-linked ichthyosis
摘要
Abstract
X-linked ichthyosis (XLI) is a metabolic disease with steroid sulfatase deifciency and often occurs at birth or shortly after birth. The encoding gene of steroid sulfatase, STS, is located on the short arm of the X chromosome, and STS deletion or mutation can lead to the development of this disease. This study collected the data on the clinical phenotype from a family, and the proband, a boy aged 11 years with full-term vaginal delivery, had dry and rough skin and black-brown scaly patches, mainly in the abdomen and extensor aspect of extremities. Peripheral blood samples were collected from each family member and DNA was extracted. Multiplex ligation-dependent probe ampliifcation (MLPA) was used to measure the copy number of STS on the X chromosome. Whole-genome microarray was used to determine the size of the segment with microdeletion in the X chromosome. MLPA was then used for prenatal diagnosis for the mother of the proband. The results revealed that the proband and another two male patients had hemizygotes in STS deletion. Gene microarray identiifed a rare deletion with a size of 1.6 Mb at Xp22.31 (chrX:6,516,735-8,131,442). Two female family members were found to be carriers. Prenatal diagnosis showed that the fetus carried by the proband’s mother was a carrier of this microdeletion. This study showed STS gene deletion in this family of XLI, which causes the unique skin lesions of XLI. MLPA is a convenient and reliable technique for the molecular and prenatal diagnosis of XLI.关键词
X-连锁鱼鳞病/STS基因/基因突变/儿童Key words
X-linked ichthyosis/STS gene/Gene mutation/Child引用本文复制引用
黄际卫,唐宁,李伍高,李哲涛,罗世强,李静文,黄钧,严提珍..1个X-连锁鱼鳞病家系的基因突变鉴定与产前诊断[J].中国当代儿科杂志,2016,18(11):1136-1140,5.基金项目
柳州市出生缺陷预防与控制重点实验室项目（2014G020404）。 （）
