KISS1R gene mutation analysis in a family with idiopathic hypogonadotropic hypogonadism

Zhou Qingju; Yang Li; Zhao Hongyan; He Li; Chen Xiao; Li Dai; Jing Yuanyuan; Wu Fan; Li Rong

doi:10.13406/j.cnki.cyxb.001062

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KISS1R gene mutation analysis in a family with idiopathic hypogonadotropic hypogonadism

更新时间：2024-01-17

- KISS1R gene mutation analysis in a family with idiopathic hypogonadotropic hypogonadism
- Journal of Chongqing Medical University Vol. 41, Issue 11, Pages: 1113-1116(2016)
- 作者机构：
  
  重庆医科大学附属第一医院内分泌科
- 作者简介：
- 基金信息：
- DOI：10.13406/j.cnki.cyxb.001062
  CLC： R588
- Published：2016，
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[1]周庆菊,杨利,赵红燕,何丽,陈晓,李岱,敬媛媛,吴凡,李蓉.KISS1R基因突变所致的一个特发性低促性腺激素性性腺功能减退症家系分析[J].重庆医科大学学报,2016,41(11):1113-1116.

Zhou Qingju, Yang Li, Zhao Hongyan, et al. KISS1R gene mutation analysis in a family with idiopathic hypogonadotropic hypogonadism. [J]. Journal of Chongqing Medical University 41(11):1113-1116(2016)
[1]周庆菊,杨利,赵红燕,何丽,陈晓,李岱,敬媛媛,吴凡,李蓉.KISS1R基因突变所致的一个特发性低促性腺激素性性腺功能减退症家系分析[J].重庆医科大学学报,2016,41(11):1113-1116. DOI： 10.13406/j.cnki.cyxb.001062.

Zhou Qingju, Yang Li, Zhao Hongyan, et al. KISS1R gene mutation analysis in a family with idiopathic hypogonadotropic hypogonadism. [J]. Journal of Chongqing Medical University 41(11):1113-1116(2016) DOI： 10.13406/j.cnki.cyxb.001062.

摘要

目的:本研究旨在收集一个特发性低促性腺激素性性腺功能减退症（idiopathic hypogonadotropic hypogonadism

IHH）的家系成员资料

通过基因检测确定其突变位点

丰富疾病突变谱。方法:对家系成员进行病史采集、生化及影像学检查。应用高通量测序技术检测先证者突变位点

Sanger测序技术对先证者及家系成员进行基因型验证。结果:该家系为近亲结婚家系

先证者为25岁女性

表现为青春期发育延迟、原发性闭经、不孕、促性腺激素及性激素水平低下

先证者妹妹及弟弟也存在明显青春期发育延迟

父母为表兄妹关系且临床表型正常。基因检测结果示先证者KISS1R基因5号外显子上

第983号碱基胞嘧啶突变为腺嘌呤（c.C983A）

使第328号氨基酸丝氨酸突变为终止密码子（p.S328X）

蛋白质翻译提前终止。父母为该突变位点的杂合子

妹妹为纯合子。结论:通过基因检测

发现了KISS1R基因上的一个新的致病突变c.C983A（p.S328X）。

Abstract

Objective:To detect the unknown mutation gene and to expand the mutation spectrum by describing a Chinese family with idiopathic hypogonadotropic hypogonadism(IHH). Methods:Clinical information of family members were collected. Second-generation sequencing technology was used to determine the proband’s mutation. Sanger sequencing was used to confirm proband’s mutation results and to detect her parents and younger sister. Results:In the inbreeding family

the proband(25-year-old)showed delayed puberty

primary amenorrhea

infertility

lack of gonadotropins and other typical manifestations of IHH. The proband’s younger brother and sister were also showed delayed puberty. The proband’s parents are cousins and are healthy. Sequencing analysis identified a novel nonsense mutation in exon 5 of the KISS1 R gene(c.C983 A

p. S328X). The proband and her sister were in homozygous state and her parents were in heterozygous state. Conclusion:We have identified a novel homozygous nonsense mutation in the KISS1 R gene causing IHH.

关键词

特发性低促性腺激素性性腺功能减退症基因突变无义突变KISS1R

Keywords

idiopathic hypogonadotropic hypogonadismgene mutationnonsense mutationKISS1R

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Physical Examination Center，Chongqing University Cancer Hospital

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