Variant analysis for a pedigree affected with limb-girdle muscular dystrophy type 2D.
10.3760/cma.j.issn.1003-9406.2019.02.010
- VernacularTitle:一个2D型肢带肌营养不良家系的基因变异分析
- Author:
Lirong DING
1
;
Shaohua TANG
;
Huanzheng LI
;
Xueqin XU
;
Zhaotang LUAN
;
Qian ZHANG
;
Jianxin LYU
Author Information
1. School of Laboratory Medicine and Life Sciences, Wenzhou Medical University, Wenzhou, Zhejiang 325035, China. jxlu313@163.com.
- Publication Type:Journal Article
- MeSH:
Exons;
Female;
Humans;
Muscular Dystrophies, Limb-Girdle;
Pedigree;
Pregnancy
- From:
Chinese Journal of Medical Genetics
2019;36(2):136-139
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To analyze variant of SGCA gene in a Chinese pedigree affected with limb-girdle muscular dystrophy type 2D with whole exome sequencing (WGS).
METHODS:Multiplex ligation-dependent probe amplification (MLPA) was employed to detect large fragment deletion or duplication of the DMD gene. FastTarget next generation sequencing was used to detect variants of the DMD gene, and the result was verified by Sanger sequencing. After excluding the diagnosis of DMD for the proband, WGS was applied to test the proband and his parents. Suspected pathogenic variants were validated by Sanger sequencing.
RESULTS:No variant, deletion or duplication of the DMD gene was detected. Whole exome sequencing showed that the proband has carried compound heterozygous missense variants c.409G>A (p.Glu137Lys) and c.409G>C (p.Glu137Gln) in exon 5 of the SGCA gene, which were respectively inherited from his mother and father. Neither variant was found in DNA derived from the cord blood sample.
CONCLUSION:The c.409G>A (p.Glu137Lys) and c.409G>C (p.Glu137Gln) compound heterozygous missense variants probably underlie the disease in the proband. Above finding has facilitated genetic counseling and prenatal diagnosis for the family.
