Table_1_Digenic Variants in the TTN and TRAPPC11 Genes Co-segregating With a Limb-Girdle Muscular Dystrophy in a Han Chinese Family.pdf

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.

肢体带肌营养不良症（LGMD）是一种遗传性遗传性疾病，其特征为肌肉进行性损害，主要表现为骨盆和肩部肌肉群的近端肌肉无力。本文描述了通过全外显子测序和Sanger测序相结合的方法，试图识别一个LGMD家系的遗传病因。在家族中，与疾病表型共分离的二基因变异，包括肌节蛋白基因（TTN）c.19481T>G（p.Leu6494Arg）和转运蛋白颗粒复合物11基因（TRAPPC11）c.3092C>G（p.Pro1031Arg），提示其可能的致病性。