Centrosomal Protein 126kDa (CEP126)

Precise topographic localization, predominance in males mostly of Asian origin, and existence of some familial cases suggest a genetic background for monomelic amyotrophy. To identify susceptibility genes for monomelic amyotrophy, we performed whole-exome sequencing of four unrelated patients with monomelic amyotrophy and detected a total of 45 novel nonsynonymous single-nucleotide polymorphisms as unique variants to monomelic amyotrophy compared to control exomes. Genetic association analysis showed significant association with monomelic amyotrophy in the Gly668Ser variant of the KIAA1377 gene. Moreover, the combination of two variants increased the risk of monomelic amyotrophy . KIAA1377 and C5orf42 synergistically play a role as susceptibility genes for monomelic amyotrophy.