A novel missense mutation in POMT1 modulates the severe congenital muscular dystrophy phenotype associated with POMT1 nonsense mutations.


Journal Article

Mutations in POMT1 lead to a group of neuromuscular conditions ranging in severity from Walker-Warburg syndrome to limb girdle muscular dystrophy. We report two male siblings, ages 19 and 14, and an unrelated 6-year old female with early onset muscular dystrophy and intellectual disability with minimal structural brain anomalies and no ocular abnormalities. Compound heterozygous mutations in POMT1 were identified including a previously reported nonsense mutation (c.2167dupG; p.Asp723Glyfs*8) associated with Walker-Warburg syndrome and a novel missense mutation in a highly conserved region of the protein O-mannosyltransferase 1 protein (c.1958C>T; p.Pro653Leu). This novel variant reduces the phenotypic severity compared to patients with homozygous c.2167dupG mutations or compound heterozygous patients with a c.2167dupG mutation and a wide range of other mutant POMT1 alleles.

Full Text

Duke Authors

Cited Authors

  • Wallace, SE; Conta, JH; Winder, TL; Willer, T; Eskuri, JM; Haas, R; Patterson, K; Campbell, KP; Moore, SA; Gospe, SM

Published Date

  • April 2014

Published In

Volume / Issue

  • 24 / 4

Start / End Page

  • 312 - 320

PubMed ID

  • 24491487

Pubmed Central ID

  • 24491487

Electronic International Standard Serial Number (EISSN)

  • 1873-2364

Digital Object Identifier (DOI)

  • 10.1016/j.nmd.2014.01.001


  • eng

Conference Location

  • England