title: The association of autosomal dominant optic atrophy and moderate deafness may be due to the R445H mutation in the OPA1 gene.
abstract: OBJECTIVE
  To examine the involvement of the optic atrophy 1 (OPA1) gene in optic atrophy associated with moderate deafness.
  
  
  METHODS
  Observational case report. The entire coding sequence of the OPA1 gene was directly sequenced in the case of a patient suffering from optic atrophy associated with moderate deafness.
  
  
  RESULTS
  A de novo heterozygous mutation R445H in the OPA1 gene was found. No similar mutation was detected in either of the patient's parents or in the 100 chromosome controls.
  
  
  CONCLUSIONS
  The R445H mutation in OPA1 might be the cause of the association between dominant optic atrophy and moderate deafness, a phenotype that may be currently underdiagnosed.
authors.affiliation: INSERM E0018 et Laboratoire de Biochimie et Biologie moléculaire, CHU Angers, Angers, France. pabonneau@chu-angers.fr
authors.forename: Patrizia
authors.initials: P
authors.lastname: Amati-Bonneau
authors.forename: Sylvie
authors.initials: S
authors.lastname: Odent
authors.forename: Christelle
authors.initials: C
authors.lastname: Derrien
authors.forename: Laurent
authors.initials: L
authors.lastname: Pasquier
authors.forename: Yves
authors.initials: Y
authors.lastname: Malthiéry
authors.forename: Pascal
authors.initials: P
authors.lastname: Reynier
authors.forename: Dominique
authors.initials: D
authors.lastname: Bonneau
mesh_terms: D000328:Adult; D004252:DNA Mutational Analysis; D003638:Deafness / Q000235:genetics*; D005260:Female; D020558:GTP Phosphohydrolases / Q000235:genetics*; D005799:Genes, Dominant; D006801:Humans; D009154:Mutation; D029241:Optic Atrophy, Autosomal Dominant / Q000235:genetics*; D016133:Polymerase Chain Reaction
chemical_list: D020558:GTP Phosphohydrolases; C415198:OPA1 protein, human