Exclusion of WWP1 mutations in a cohort of dystroglycanopathy patients
Article first published online: 18 AUG 2011
Copyright © 2011 Wiley Periodicals, Inc.
Muscle & Nerve
Volume 44, Issue 3, pages 388–392, September 2011
How to Cite
Godfrey, C., Clement, E., Abbs, S. and Muntoni, F. (2011), Exclusion of WWP1 mutations in a cohort of dystroglycanopathy patients. Muscle Nerve, 44: 388–392. doi: 10.1002/mus.22068
- Issue published online: 18 AUG 2011
- Article first published online: 18 AUG 2011
- Accepted manuscript online: 16 FEB 2011 09:58AM EST
- Manuscript Accepted: 4 FEB 2011
- Muscular Dystrophy Campaign. Grant Numbers: RA3/734, PO0916
- National Commissioning Group
- dystroglycan glycosylation;
- muscular dystrophy;
- ubiquitin ligase;
Aberrant glycosylation of α-dystroglycan is associated with a subset of clinically heterogeneous muscular dystrophies collectively referred to as the dystroglycanopathies. These autosomal-recessive disorders span a wide spectrum of clinical severity ranging from Walker–Warburg syndrome, with severe brain and eye abnormalities, to mild adult-onset limb-girdle muscular dystrophy. To date, seven causative genes have been identified in the dystroglycanopathies, yet studies have suggested that a significant proportion of patients harbor mutations in novel genes.
A homozygous missense alteration in the gene encoding ubiquitin ligase WW domain–containing protein 1 (WWP1), has recently been identified in the dystroglycanopathy chicken. We therefore investigated whether mutations in the human ortholog were present in a cohort of 33 dystroglycanopathy patients.
No clear pathogenic mutations were identified.
The present findings indicate that WWP1 is not a common cause of human dystroglycanopathy. Muscle Nerve 44: 388–392, 2011