Genetic analysis of a Chinese pedigree affected with Brachydactyly type B1 due to a novel variant of ROR2 gene
10.3760/cma.j.cn511374-20230507-00267
- VernacularTitle: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
- Author:
Huiying REN
1
;
Wei ZHAO
;
Nan JIANG
;
Shuo LI
Author Information
1. 青岛大学附属妇女儿童医院基因检测中心，青岛 266034
- Keywords:
Brachydactyly type B1;
Whole exome sequencing;
ROR2 gene
- From:
Chinese Journal of Medical Genetics
2024;41(5):561-564
- CountryChina
- Language:Chinese
-
Abstract:
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.
