Introduction: 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.
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