PURPOSE: To examine the involvement of the optic atrophy 1 (OPA1) gene in optic atrophy associated with moderate deafness. DESIGN: 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. CONCLUSION: 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.
PURPOSE: To examine the involvement of the optic atrophy 1 (OPA1) gene in optic atrophy associated with moderate deafness. DESIGN: 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. CONCLUSION: 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: Nanna D Rendtorff; Marianne Lodahl; Houda Boulahbel; Ida R Johansen; Arti Pandya; Katherine O Welch; Virginia W Norris; Kathleen S Arnos; Maria Bitner-Glindzicz; Sarah B Emery; Marilyn B Mets; Toril Fagerheim; Kristina Eriksson; Lars Hansen; Helene Bruhn; Claes Möller; Sture Lindholm; Stefan Ensgaard; Marci M Lesperance; Lisbeth Tranebjaerg Journal: Am J Med Genet A Date: 2011-04-28 Impact factor: 2.802