文献类型：期刊文献

中文题名：甲状腺激素受体相互作用物11基因变异所致软骨生成不全IA型家系遗传学分析

英文题名：Pedigree genetics analysis of TRIP11 mutation in achondrogenesis IA

作者：陈慧芳[1,2];张钏[1];周秉博[1];陈雪[1];惠玲[1]

第一作者：陈慧芳

机构：[1]甘肃省妇幼保健院医学遗传中心甘肃省出生缺陷与罕见病临床研究中心,兰州730050;[2]甘肃中医药大学公共卫生学院,兰州730000

第一机构：甘肃省妇幼保健院医学遗传中心甘肃省出生缺陷与罕见病临床研究中心,兰州730050

年份：2024

卷号：33

期号：4

起止页码：466

中文期刊名：生殖医学杂志

外文期刊名：Journal of Reproductive Medicine

收录：CSTPCD

基金：甘肃省科技厅创新基地及人才计划(21JR7RA680);兰州市科技计划项目(2021-1-182);国家科技资源共享服务平台计划项目(YCZYPT[2020]05-03)。

语种：中文

中文关键词：软骨生成不全IA型;牙软骨发育不良;甲状腺激素受体相互作用物11基因;高尔基体微管相关蛋白210

外文关键词：Achondrogenesis IA;Odontochondrodysplasia;Thyroid hormone receptor interactor 11;Golgi microtubule-associated protein 210

摘要：软骨生成不全IA型是一种罕见的致死性疾病,以常染色体隐性方式遗传,该疾病的发生与人14号染色体上甲状腺激素受体相互作用物11(TRIP11)基因变异有关。本研究采集了1例超声检查疑似致命性骨骼发育不良胎儿的流产皮肤组织及其父母的静脉血,通过提取基因组DNA,应用全外显子组测序技术对胎儿组织及其父母进行平行测序,对疑似致病变异用Sanger测序进行验证;并对以往报道基因检测结果进行文献复习,结合文献复习探讨该病的临床特点。结果发现了胎儿TRIP11检测到复合杂合变异c.790C>T(p.R264*)/c.589-2A>G,两位点分别来自父亲和母亲,符合常染色体隐性遗传。本研究报道的TRIP11基因复合杂合变异尚未见报道,拓宽了软骨生成不全1A型的基因变异谱,为该家庭的遗传咨询及产前诊断提供了重要的分子基础。
Achondrogenesis 1A is a rare and lethal disorder inherited in an autosomal recessive manner,which is associated with a variant of the thyroid hormone receptor interactor 11 gene(TRIP11)on human chromosome 14.In this study,skin tissues of a aborted fetus with suspected fatal skeletal dysplasia by ultrasonography and venous blood of its parents were collected,and fetal tissues and its parents were sequenced in parallel by extracting genomic DNA and applying whole exome sequencing technology.The suspected pathogenic variants were verified by Sanger sequencing.A literature review of previously reported genetic test results was also performed,and clinical characteristics of the disease were explored in the context of the literature review.The results identified a compound heterozygous variant c.790C>T(p.R264*)/c.589-2A>G detected in fetal TRIP11,originated respectively from the father and the mother,which is consistent with autosomal recessive inheritance.The compound heterozygous variants in the TRIP11 gene reported in this study have not yet been reported,broadening the spectrum of genetic variants in achondrogenesis 1A and providing an important molecular basis for genetic counseling and prenatal diagnosis in this family.