Analysis of gene variant in a Chinese pedigree with preaxial polydactyly.
10.3760/cma.j.cn511374-20200824-00620
- VernacularTitle:一个轴前多指畸形家系的基因变异分析
- Author:
Zhe LI
1
;
Yongan ZHOU
;
Jianwei LI
;
Junmei GENG
;
Xingxing LI
;
Yuan BAI
;
Yaxin HAN
;
Jianping CHENG
;
Yanhong QIN
;
Ruirui REN
Author Information
1. The Second Medical College of Shanxi Medical University, Taiyuan, Shanxi 030001, China. zya655903@163.com.
- Publication Type:Journal Article
- MeSH:
China;
Female;
Humans;
Mutation;
Pedigree;
Polydactyly/genetics*;
Thumb;
Whole Exome Sequencing
- From:
Chinese Journal of Medical Genetics
2021;38(11):1106-1109
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To analyze the pathogenic variant of preaxial polydactyly in a Chinese Han pedigree and identify the cause of polydactyly.
METHODS:The peripheral blood DNA of the proband and her parents was extracted. The polydactyly-related genes were detected by trio whole exome sequencing, and the suspected pathogenic gene was screened out. Sanger sequencing was applied to other members of the pedigree.
RESULTS:The results of gene sequencing showed that the LMBR1 gene had a heterozygous variant of c.423+4909(IVS5)C>T in 6 patients of the pedigree. The same variant was not detected in family members with normal phenotype. Based on the ACMG guidelines, c.423+4909(IVS5)C>T of the LMBR1 gene was predicted to be pathogenic (PM1+PM2+PP1-S(PS)+PP4+PP5).
CONCLUSION:The heterozygous C>T variant at position 4909 of intron 5 of the LMBR1 gene probably underlies the disease in this pedigree.
