ROR2基因新变异所致B1型短指/趾畸形一个家系的遗传学分析  

Genetic analysis of a Chinese pedigree affected with Brachydactyly type B1 due to a novel variant of ROR2 gene

作　　者：任慧颖 赵炜[1] 姜楠[1] 李朔[1] Ren Huiying;Zhao Wei;Jiang Nan;Li Shuo(Genetic Testing Center,the Women and Children′s Hospital Affiliated to Qingdao University,Qingdao,Shandong 266034,China)

机构地区：[1]青岛大学附属妇女儿童医院基因检测中心,青岛266034

出　　处：《中华医学遗传学杂志》2024年第5期561-564,共4页Chinese Journal of Medical Genetics

基　　金：青岛市临床重点专科建设项目(青卫政学[2022]6号)。

摘　　要：目的通过全外显子组测序(WES)明确1个B1型短指/趾畸形(BDB1)家系的遗传学病因。方法选取2021年6月25日于青岛大学附属妇女儿童医院就诊的1个BDB1家系作为研究对象。收集该家系的临床资料,运用WES技术对先证者进行检测,筛选候选变异,并通过Sanger测序技术对先证者及其父母和姐姐进行家系验证。结果WES及Sanger测序结果显示先证者及其父亲均携带ROR2基因c.2257delT变异。根据美国医学遗传学与基因组学学会(ACMG)相关指南,判定其为可能致病性变异(PVS1_Strong+PM2_Supporting+PP4)。结论ROR2基因c.2257delT变异既往未见报道,丰富了BDB1的基因变异谱。上述结果为该家系的临床诊断和遗传咨询提供了重要的依据。Objective To explore the genetic basis for a Chinese pedigree affected with Brachydactyly type B1(BDB1)through whole exome sequencing(WES).Methods A BDB1 pedigree admitted to the Affiliated Women and Children′s Hospital of Qingdao University on June 25,2021 was selected as the study subject.Clinical data of the pedigree was collected with informed consent.WES was carried out for the proband,and candidate variant was verified by Sanger sequencing and bioinformatic analysis.Results WES and Sanger sequencing had identified a heterozygous c.2257delT variant in the ROR2 gene of the proband and his affected father,which has conformed to an autosomal dominant pattern of inheritance.Based on the guidelines from the American College of Medical Genetics and Genomics(ACMG),the variant was classified to be likely pathogenic(PVS1_Strong+PM2 Supporting+PP4).Conclusion The c.2257delT variant of the ROR2 gene was unreported previously and is strongly correlated with the BDB1-like phenotype in this pedigree.Above finding has enriched the mutational spectrum of the ROR2 gene and facilitated the diagnosis and genetic counseling for this pedigree.

关 键 词：B1型短指/趾畸形 全外显子组测序 ROR2基因 

分 类 号：R682.1[医药卫生—骨科学]