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
- 30 April 2005
- journal article
- research article
- Published by Elsevier BV in Neuromuscular Disorders
- Vol. 15 (4), 271-275
- https://doi.org/10.1016/j.nmd.2005.01.013
Abstract
Mutations of the protein O-mannosyltransferase (POMT1) gene affect glycosylation of alpha-dystroglycan, 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 alpha-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.Keywords
This publication has 19 references indexed in Scilit:
- Glycosylation defects in muscular dystrophiesCurrent Opinion in Neurology, 2004
- Demonstration of mammalian protein O -mannosyltransferase activity: Coexpression of POMT1 and POMT2 required for enzymatic activityProceedings of the National Academy of Sciences of the United States of America, 2003
- A homozygous nonsense mutation in the Fukutin gene causes a Walker-Warburg syndrome phenotypeJournal of Medical Genetics, 2003
- Defective glycosylation in muscular dystrophyThe Lancet, 2002
- Mutations in the O-Mannosyltransferase Gene POMT1 Give Rise to the Severe Neuronal Migration Disorder Walker-Warburg SyndromeAmerican Journal of Human Genetics, 2002
- Post-translational disruption of dystroglycan–ligand interactions in congenital muscular dystrophiesNature, 2002
- Deficiency of α-Dystroglycan in Muscle–Eye–Brain DiseaseBiochemical and Biophysical Research Communications, 2002
- Muscular Dystrophy and Neuronal Migration Disorder Caused by Mutations in a Glycosyltransferase, POMGnT1Developmental Cell, 2001
- Selective deficiency of α-dystroglycan in Fukuyama-type congenital muscular dystrophyNeurology, 2001
- Tokyo campus risingNature, 1998