[Variant analysis for a pedigree affected with limb-girdle muscular dystrophy type 2D].
作者信息
Ding Lirong, Tang Shaohua, Li Huanzheng, Xu Xueqin, Luan Zhaotang, Zhang Qian, Lyu Jianxin
机构信息
School of Laboratory Medicine and Life Sciences, Wenzhou Medical University, Wenzhou, Zhejiang 325035, China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Feb 10;36(2):136-139. doi: 10.3760/cma.j.issn.1003-9406.2019.02.010.
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.
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