Analysis of MYH3 gene variation and prenatal diagnosis for two pedigrees affected with congenital arthrogryposis.
10.3760/cma.j.issn.1003-9406.2019.05.008
- VernacularTitle:两个先天性关节挛缩家系的MYH3基因变异分析及产前诊断
- Author:
Xueqin XU
1
;
Lirong DING
2
;
Huanzheng LI
1
;
Zhaoke ZHENG
1
;
Shaohua TANG
1
Author Information
1. Central Laboratory, Central Hospital of Wenzhou, Zhejiang 325000, China. Email: tsh006@163.com.
2. School of Laboratory Medicine and Life Science, Wenzhou Medical University, Wenzhou, Zhejiang 325035, China.
- Publication Type:Journal Article
- MeSH:
Arthrogryposis;
Cytoskeletal Proteins;
genetics;
Female;
Heterozygote;
Humans;
Mutation;
Pedigree;
Pregnancy;
Prenatal Diagnosis;
Whole Exome Sequencing
- From:
Chinese Journal of Medical Genetics
2019;36(5):447-450
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic etiology of two pedigrees affected with congenital arthrogryposis.
METHODS:Whole exome sequencing (WES) was used to screen potential variations in the proband. Suspected variations were analyzed with bioinformatics software and validated by Sanger sequencing.
RESULTS:A heterozygous c.1123G>A (p.Glu375Lys) variation was detected in the proband and an affected fetus from pedigree 1, while a de novo heterozygous c.118 G>A (p.Val40Met) variation was detected in an affected fetus from pedigree 2.
CONCLUSION:The two heterozygous variations of the MYH3 gene probably underlie the disease in the pedigrees. Above results have facilitated genetic counseling and prenatal diagnosis.
