1.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 23(5): 481-5, 2006 Oct.
Artigo
em Inglês
| MEDLINE
| ID: mdl-17029191
RESUMO
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.