Digenic Variants in the TTN and TRAPPC11 Genes Co-segregating With a Limb-Girdle Muscular Dystrophy in a Han Chinese Family

被引：9

作者：

Chen, Qian ^{[1
,2
]}

Zheng, Wen ^{[3
]}

Xu, Hongbo ^{[1
]}

Yang, Yan ^{[3
]}

Song, Zhi ^{[3
]}

Yuan, Lamei ^{[1
,4
]}

Deng, Hao ^{[1
,3
,4
]}

机构：

[1] Cent South Univ, Xiangya Hosp 3, Ctr Med Expt, Changsha, Peoples R China

[2] Cent South Univ, Xiangya Hosp 3, Dept Pathol, Changsha, Peoples R China

[3] Cent South Univ, Xiangya Hosp 3, Dept Neurol, Changsha, Peoples R China

[4] Cent South Univ, Dis Genome Res Ctr, Changsha, Peoples R China

来源：

FRONTIERS IN NEUROSCIENCE | 2021年 / 15卷

基金：

中国国家自然科学基金;

关键词：

limb-girdle muscular dystrophies; digenic variants; the TTN gene; the TRAPPC11 gene; exome sequencing;

D O I：

10.3389/fnins.2021.601757

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

Limb-girdle muscular dystrophies (LGMD) are hereditary genetic disorders characterized by progressive muscle impairment which predominantly include proximal muscle weaknesses in the pelvic and shoulder girdles. This article describes an attempt to identify genetic cause(s) for a LGMD pedigree via a combination of whole exome sequencing and Sanger sequencing. Digenic variants, the titin gene (TTN) c.19481T>G (p.Leu6494Arg) and the trafficking protein particle complex 11 gene (TRAPPC11) c.3092C>G (p.Pro1031Arg), co-segregated with the disease phenotype in the family, suggesting their possible pathogenicity.

引用

页数：8

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