1例X连锁隐性遗传鱼鳞病合并隐睾患儿家系的遗传学分析  

Genetic analysis of a child and his family with X-linked recessive ichthyosis complicated with cryptorchidism

作　　者：林芳 景亚玲 张传英[1,2] 牟燕[1,2] 邓睿 唐丽萍 宋桂芹[4] 赵明才[5] 刘晓芳[1,2] LIN Fang;JING Ya-ling;ZHANG Chuan-ying;MU Yan;DENG Rui;TANG Li-ping;SONG Gui-qin;ZHAO Ming-cai;LIU Xiao-fang(Prenatal Diagnosis Center,Suining Central Hospital,Suining 629000;Reproductive Medicine Center,Suining Central Hospital,Suining 629000;Department of Pediatric Surgery,Suining Central Hospital,Suining 629000;Institute of Basic Medicine and Forensic Medicine,North Sichuan Medical College,Nanchong 637000;Department of Clinical Laboratory,Suining Central Hospital,Suining 629000,Sichuan,China)

机构地区：[1]遂宁市中心医院产前诊断中心,四川遂宁629000 [2]遂宁市中心医院生殖医学中心,四川遂宁629000 [3]遂宁市中心医院儿外科,四川遂宁629000 [4]川北医学院基础医学与法医学研究所,四川南充637000 [5]遂宁市中心医院检验科,四川遂宁629000

出　　处：《川北医学院学报》2023年第12期1714-1717,共4页Journal of North Sichuan Medical College

基　　金：四川省科技厅重点研发项目(21ZDYF2124);遂宁市中心医院科研项目(2021y03)。

摘　　要：目的:对1例X连锁隐性遗传鱼鳞病合并隐睾的患儿及其家系成员进行遗传学分析,探讨其致病原因。方法:对患儿及其家庭成员进行常规染色体G显带核型分析和低深度全基因组拷贝数变异测序分析(CNV-seq)。结果:染色体核型分析未见明显异常。CNV-seq检测发现患儿及哥哥和母亲的X染色体p22.33-p22.31处缺失5.28Mb区域,该片段包含Xp22.31 recurrent region (includes STS)全部。结论:患儿X染色体拷贝数变异遗传自其母亲,Xp22.31缺失是该患儿异常表型的遗传学病因。Objective:To conduct genetic analysis on a case of X-linked recessive ichthyosis complicated with cryptorchidism and his family members,in order to identify the cause of the disease.Methods:Chromosome G-banding karyotype analysis and low-depth whole-genome copy number variation sequencing(CNV-seq)were performed in the patient and his family members.Results:The chromosome karyotype showed no specific abnormalities.CNV-seq found a deletion of 5.28Mb on the X chromosome p22.33-p22.31 of the patient,his brother,and mother,which contains all Xp22.31 current regions(including STS).Conclusion:The copy number variation of the X chromosome in the patient is inherited from his mother,and the deletion of Xp22.31 is the genetic cause of the abnormal phenotype in the patient.

关 键 词：鱼鳞病 隐睾 染色体G显带核型分析 低深度全基因组测序 

分 类 号：R758.52[医药卫生—皮肤病学与性病学]