POMGnT1, POMT1, and POMT2 mutations in congenital muscular dystrophies.
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.
Endo
Tamao
T
Molecular Glycobiology, Tokyo Metropolitan Institute of Gerontology, Itabashi-ku, Tokyo, Japan.
Manya
Hiroshi
H
Seta
Nathalie
N
Guicheney
Pascale
P
D002478:Cells, Cultured; D020022:Genetic Predisposition to Disease; D006801:Humans; D008364:Mannosyltransferases / Q000235:genetics* / Q000378:metabolism; D009136:Muscular Dystrophies / Q000235:genetics*; D009154:Mutation; D017351:N-Acetylglucosaminyltransferases / Q000235:genetics* / Q000378:metabolism
D008364:Mannosyltransferases; D017351:N-Acetylglucosaminyltransferases; C443106:protein O-mannose beta-1,2-N-acetylglucosaminyltransferase; C082696:protein O-mannosyltransferase