Exclusion of WWP1 mutations in a cohort of dystroglycanopathy patients

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. Methods: 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. Results: No clear pathogenic mutations were identified. Conclusion: The present findings indicate that WWP1 is not a common cause of human dystroglycanopathy. Muscle Nerve 44: 388–392, 2011