POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease -: art. no. e115

Mutations located throughout the POMGnT1 gene encoding protein O-mannose b-1, 2-N-acetylglucosaminyltransferase underlie muscle-eye-brain disease (MEB), an autosomal recessive disorder characterised by brain malformation, congenital muscular dystrophy, and ocular abnormalities. MEB is enriched in the Finnish population, where a previously described mutation, c. 1539+ 1G-->A, accounts for 99% of the MEB chromosomes. Nine new POMGnT1 mutations in 10 patients of various ethnic origins are described, adding the number of reported MEB associated POMGnT1 mutations to 22. The clinical phenotypes of the non-Finnish patients in this study and published previously fall within the variation observed in the Finnish patients who are homozygous for the founder mutation, indicating that in addition to mutations in the POMGnT1 gene, other genetic and environmental factors influence the MEB phenotype.