POMGnT1, POMT1, and POMT2 mutations in congenital muscular dystrophies

Methods Enzymol. 2010:479:343-52. doi: 10.1016/S0076-6879(10)79019-4.

Abstract

Alpha-dystroglycanopathies are a group of rare inherited neuromuscular disorders characterized by reduced glycosylation of alpha-dystroglycan (alpha-DG). Mutations in six genes (POMT1, POMT2, POMGNT1, FKTN, FKRP, and LARGE) have been identified in patients with alpha-dystroglycanopathies. Due to an extremely broad clinical spectrum and relatively poor phenotype-genotype correlation, diagnosis of alpha-dystroglycanopathies is difficult and requires searching for mutations gene by gene. At present, of the six proteins involved on alpha-dystroglycanopathies, the function of the gene products is only known for POMT1, POMT2, and POMGnT1, all responsible for the O-mannosylglycan biosynthesis. This chapter describes the assay protocols to diagnose patients with alpha-dystroglycanopathy by measuring glycosyltransferase activity.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cells, Cultured
  • Genetic Predisposition to Disease*
  • Humans
  • Mannosyltransferases / genetics*
  • Mannosyltransferases / metabolism
  • Muscular Dystrophies / genetics*
  • Mutation*
  • N-Acetylglucosaminyltransferases / genetics*
  • N-Acetylglucosaminyltransferases / metabolism

Substances

  • Mannosyltransferases
  • N-Acetylglucosaminyltransferases
  • protein O-mannose beta-1,2-N-acetylglucosaminyltransferase
  • protein O-mannosyltransferase