These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: The G401D mutation of OPA1 causes autosomal dominant optic atrophy and hearing loss in a Chinese family.
    Author: Ke T, Nie SW, Yang QB, Liu JP, Zhou LN, Ren X, Liu JY, Wang Q, Liu MG.
    Journal: Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2006 Oct; 23(5):481-5. PubMed ID: 17029191.
    Abstract:
    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.
    [Abstract] [Full Text] [Related] [New Search]