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., ...Daha Fazla

NEUROMUSCULAR DISORDERS, cilt.15, sa.4, ss.271-275, 2005 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 15 Sayı: 4
  • Basım Tarihi: 2005
  • Doi Numarası: 10.1016/j.nmd.2005.01.013
  • Dergi Adı: NEUROMUSCULAR DISORDERS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.271-275
  • Anahtar Kelimeler: 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 Üniversitesi Adresli: Evet

Özet

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.