KDM3B基因突变导致的1个Diets-Jongmans综合征家系的遗传学分析及产前诊断  

Genetic analysis and prenatal diagnosis of a family with Diets-Jongmans syndrome caused by KDM3B gene variant

作　　者：李国强 常椿欣 杲丽[4] 李牛 李淑元[1,2,3] LI Guoqiangg;CHANG Chunxin;GAO Li;LI Niu;LI Shuyuan(Department of Reproductive Genetics,the International Peace Maternity and Child Health Hospital,Shanghai Jiao Tong University School of Medicine,Shanghai 200030,China;Shanghai Key Laboratory of Embryo Original Diseases,Shanghai 200030,China;Faculty of Medical Laboratory Science,College of Health Science and Technology,Shanghai Jiao Tong University School of Medicine,Shanghai 200025,China;Department of Prenatal Diagnostic Center,the International Peace Maternity and Child Health Hospital,Shanghai Jiao Tong University School of Medicine,Shanghai 200030,China)

机构地区：[1]上海交通大学医学院附属国际和平妇幼保健院生殖遗传科,上海200030 [2]上海市胚胎源性疾病重点实验室,上海200030 [3]上海交通大学医学院医学技术学院医学检验技术系,上海200025 [4]上海交通大学医学院附属国际和平妇幼保健院产前诊断中心,上海200030

出　　处：《中国优生与遗传杂志》2024年第7期1413-1415,共3页Chinese Journal of Birth Health & Heredity

基　　金：上海市2022年度“科技创新行动计划”医学创新研究专项项目(22Y11906700)。

摘　　要：目的 对1个先证者及母亲表现为不同程度智力障碍的家系进行遗传学分析,明确致病原因,并进行产前诊断。方法 提取先证者及其父母外周血DNA和胎儿羊水DNA,利用全外显子组测序技术,结合患者相应临床表型,鉴别相关基因的候选变异位点,采用Sanger测序对先证者及父母候选位点进行验证,并对胎儿进行产前诊断。结果 全外显子组测序结果显示先证者及母亲的KDM3B基因存在c.2782C>T p.(Gln928*)杂合致病变异,是没有报道过的新的变异,产前诊断结果显示胎儿不存在该致病位点。结论 KDM3B基因c.2782C>Tp.(Gln928*)变异为该家系的遗传学致病原因,本研究结果为家系后续的遗传咨询提供了可靠依据。Objective To analyze the genetic etiology of a family with a proband and mother exhibiting variable de-grees of intellectual disability,and perform prenatal diagnosis.Methods The peripheral blood DNA of the proband and his parents and amniotic fluid DNA of the fetal were extracted.The pathogenic variants of the candidate genes were analyzed by whole exome sequencing(WES)according to the patients'clinical phenotype.Sanger sequencing was used to verify the vari-ant and perform prenatal diagnosis.Results The WES results showed that the proband harbored a maternal heterozygous variant c.2782C>T p.(Gln928*)in KDM3B gene,which was a novel variant that had not been reported.The fetus didn't inherit the variant.Conclusion The c.2782C>T p.(Gln928*)variant in the KDM3B gene was the genetic cause of this family.The results of this study provided reliable evidence for subsequent genetic counseling of the family.

关 键 词：Diets-Jongmans综合征 全外显子组测序 KDM3B基因 产前诊断 

分 类 号：R714.5[医药卫生—妇产科学] R440[医药卫生—临床医学]