title: Exclusion of WWP1 mutations in a cohort of dystroglycanopathy patients.
abstract: BACKGROUND
  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.
  
  
  CONCLUSIONS
  The present findings indicate that WWP1 is not a common cause of human dystroglycanopathy.
authors: Dubowitz Neuromuscular Centre, Institute of Child Health, University College, 30 Guilford Street, London WC1N 1EH, UK.
authors: Caroline
authors: C
authors: Godfrey
authors: Emma
authors: E
authors: Clement
authors: Stephen
authors: S
authors: Abbs
authors: Francesco
authors: F
authors: Muntoni
mesh_terms: D015331:Cohort Studies; D049030:Dystroglycans / Q000378:metabolism*; D005820:Genetic Testing; D006031:Glycosylation; D006720:Homozygote; D006801:Humans; D018482:Muscle, Skeletal / Q000378:metabolism; D009136:Muscular Dystrophies / Q000235:genetics* / Q000378:metabolism*; D020125:Mutation, Missense / Q000235:genetics*; D017422:Sequence Analysis, DNA; D044767:Ubiquitin-Protein Ligases / Q000235:genetics*
chemical_list: C483081:DAG1 protein, human; D049030:Dystroglycans; C471642:WWP1 protein, human; D044767:Ubiquitin-Protein Ligases