OBJECTIVE: To describe the clinical and genetic characteristics of a Chinese family affected with optic atrophy 1 (OPA1). METHODS: Linkage analysis and DNA sequencing as well as PCR/restriction fragment length polymorphism (RFLP) analysis were performed to identify the disease-causing mutation. RESULTS: A missense mutation, G401D in the OPA1 gene was identified, and the patients demonstrate inherited syndrome of optic atrophy and hearing loss. CONCLUSION: The present study demonstrates that a mutation in the OPA1 gene can cause optic atrophy in Chinese patients, and supports the notion that OPA1 mutation may lead to OPA1 combined with hearing loss.
OBJECTIVE: To describe the clinical and genetic characteristics of a Chinese family affected with optic atrophy 1 (OPA1). METHODS: Linkage analysis and DNA sequencing as well as PCR/restriction fragment length polymorphism (RFLP) analysis were performed to identify the disease-causing mutation. RESULTS: A missense mutation, G401D in the OPA1 gene was identified, and the patients demonstrate inherited syndrome of optic atrophy and hearing loss. CONCLUSION: The present study demonstrates that a mutation in the OPA1 gene can cause optic atrophy in Chinese patients, and supports the notion that OPA1 mutation may lead to OPA1 combined with hearing loss.
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
Authors: P Yu-Wai-Man; P G Griffiths; G S Gorman; C M Lourenco; A F Wright; M Auer-Grumbach; A Toscano; O Musumeci; M L Valentino; L Caporali; C Lamperti; C M Tallaksen; P Duffey; J Miller; R G Whittaker; M R Baker; M J Jackson; M P Clarke; B Dhillon; B Czermin; J D Stewart; G Hudson; P Reynier; D Bonneau; W Marques; G Lenaers; R McFarland; R W Taylor; D M Turnbull; M Votruba; M Zeviani; V Carelli; L A Bindoff; R Horvath; P Amati-Bonneau; P F Chinnery Journal: Brain Date: 2010-02-15 Impact factor: 13.501