Research progress on POMT1 gene variation in α-dystroglycanopathy

Abstract

Protein O-mannosyl-transferase 1 （POMT1） gene-encoded protein participates in the initial step of protein O-mannosylation modification and plays an important role in various physiological processes，such as cell connection and neuronal migration，etc. α-dystroglycanopathy （α-DGP） is a group of muscular dystrophy-related diseases caused by defects in α-dystroglycan （α-DG） O-glycosylation. As one of the causative genes of α-DGP，POMT1 gene is usually closely correlated with clinical phenotype of α-DGP with severe symptoms and poor prognosis. In this article，clinical diagnosis and treatment，genotype-phenotype relationship，and possible pathogenesis of α-DGP associated with POMT1 gene variation were reviewed，aiming to further explore the pathogenic mechanism of POMT1 variation and provide new ideas for the molecular biology-level treatment of POMT1 gene variation-related α-DGP.

Keywords

• congenital abnormality|walker-warburg syndrome|pomt1 gene|α-dystroglycanopathy|protein o-mannosyl-transferase|genotype-phenotype relationship