An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene

Balci B., Uyanik G., Dincer P. R., Gross C., Willer T., Talim B., ...More

NEUROMUSCULAR DISORDERS, vol.15, no.4, pp.271-275, 2005 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 15 Issue: 4
  • Publication Date: 2005
  • Doi Number: 10.1016/j.nmd.2005.01.013
  • Journal Name: NEUROMUSCULAR DISORDERS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.271-275
  • Keywords: POMT1 gene, LGMD2, WwS, hypoglycosylation of alpha-dystroglycan, A200P mutation, EYE-BRAIN DISEASE, ALPHA-DYSTROGLYCAN, PROTEIN GENE, DEFECTIVE GLYCOSYLATION, FKRP GENE, DEFICIENCY, DISRUPTION, PHENOTYPE, FORM
  • Hacettepe University Affiliated: Yes

Abstract

Mutations of the protein O-mannosyltransferase (POMT1) gene affect glycosylation of alpha-dystroglyean, leading to Walker-Warburg syndrome, a lethal disorder in early life with severe congenital muscular dystrophy, and brain and eye malformations. Recently, we described a novel form of recessive limb girdle muscular dystrophy with mild mental retardation, associated with an abnormal a-dystroglycan pattern in the muscle, suggesting a glycosylation defect. Here, we present evidence that this distinct phenotype results from a common mutation (A200P) in the POMT1 gene. Our findings further expand the phenotype of glycosylation disorders linked to POMT1 mutations. Furthermore, the A200P mutation is part of a conserved core haplotype, indicating an ancestral founder mutation. (c) 2005 Elsevier B.V. All rights reserved.