摘要
目的对1例表现为全面发育落后的患儿进行临床和实验室检查以及高通量测序分析,以明确其遗传学病因。方法应用二代目标区域捕获测序技术对先证者进行遗传病疾病相关基因的检测,对可疑变异位点进行保守性及致病性预测,并进行先证者及其父母和妹妹的Sanger测序验证。结果基因检测示先证者KDM5C基因存在c.150G>T和c.150+1G>T半合子变异,其母亲和妹妹携带c.150G>A和c.150+1G>T杂合变异。c.150+1G>T变异为未报道过的新变异,该变异引起剪切位点的改变,生物学软件预测具有致病性。结论KDM5C基因的c.150+1G>T半合子变异引起Claes-Jensen型X连锁精神发育迟滞,可能是患儿的遗传学病因。新变异的检出丰富了KDM5C基因的变异数据库。
Objective To explore the genetic basis of a Chinese patient featuring global developmental delay.Methods Peripheral venous blood samples from the proband and his parents and sister were taken for the extraction of DNA.Target capture and next generation sequencing was carried out to detect genetic variants associated with the disease.Suspected variant was validated by Sanger sequencing.Results Genetic testing discovered that the proband has carried hemizygous c.150G>T and c.150+1G>T variants of the KDM5C gene which are inherited from his mother.His younger sister also carried the variants.The c.150+1G>A variant was unreported previously,which has altered a splice site and was predicted to be pathogenic by bioinformatics analysis.Conclusion The hemizygous c.150+1G>T variant of the KDM5C gene,known to underlie X-linked Claes-Jensen type syndromic mental retardation,probably accounts for the disorder in the patient.Identification of this variant has enriched the variant spectrum of the KDM5C gene.
作者
高敏
邢梦娟
张开慧
律玉强
马健
盖中涛
刘毅
Gao Min;Xing Mengjuan;Zhang Kaihui;Lyu Yuqiang;Ma Jian;Gai Zhongtao;Liu Yi(Pediatric Research Institute,Qilu Children’s Hospital of Shandong University,Jinan,Shandong 250022,China;Pediatric Health Care Institute,Qilu Children’s Hospital of Shandong University,Jinan,Shandong 250022,China)
出处
《中华医学遗传学杂志》
CAS
CSCD
2020年第7期736-738,共3页
Chinese Journal of Medical Genetics
作者简介
本文有同等贡献:高敏;本文有同等贡献:邢梦娟;通信作者:刘毅,Email:liuyi-ly@126.com。
