国际生殖健康/计划生育杂志2024，Vol.43Issue(4)：284-288,5.DOI:10.12280/gjszjk.20240053
全外显子组测序鉴定7q36.3微重复的胎儿多指并指畸形
Whole Exome Sequencing Identified A 7q36.3 Microduplication in A Fetus with Polysyndactyly
摘要
Abstract
Objective:To conduct clinical and molecular genetic analysis in a Chinese family with familial polysyndactyly.Methods:A pregnant woman with fetal polysyndactyly was enrolled in this study,amniocentesis was performed at Quanzhou Women's and Children's Hospital for prenatal diagnosis at the gestational age of 24+5 weeks.Chromosomal karyotype analysis was performed to reveal fetal chromosomal abnormalities.Subsequently,whole exome sequencing(WES)was carried out to analyze sequence variations.Quantitative real time polymerase chain reaction(qPCR)was use to confirm the detected microdeletion/microduplication.Results:The fetal chromosome karyotype results elicited a normal karyotype result.However,WES demonstrated an 803.7 kb fragment duplication(seq[GRCh37]7q36.3(155865332_156669022)×3)in the 7q36.3 region in the fetus,which covering RNF32 and LMBR1(exon 2 to exon 17).According to the American College of Medical Genetics and Genomics(ACMG)guidelines,the 7q36.3 duplication was interpreted as pathogenic copy number variants.The subsequent qPCR verification indicated that the duplication was inherited from the father who had similar clinical phenotype.Conclusions:Our findings further confirm that 7q36.3 microduplication is the genetic cause for fetal polysyndactyly,which may lead to triphalangeal thumb-polysyndactyly syndrome,LMBR1 may be the main effector gene.关键词
多指(趾)畸形/并指(趾)/病因诊断/全外显子组测序/核型分析/产前诊断/拷贝数变异Key words
Polydactyly/Syndactyly/Etiology diagnosis/Whole exome sequencing/Karyotype analysis/Prenatal diagnosis/Copy number variants引用本文复制引用
庄建龙,许伟雄,江矞颖..全外显子组测序鉴定7q36.3微重复的胎儿多指并指畸形[J].国际生殖健康/计划生育杂志,2024,43(4):284-288,5.基金项目
泉州市科技计划项目(2023NS068) （2023NS068）
福建省卫健委青年科研项目(2020QNB045) （2020QNB045）
