American journal of ophthalmology · 2007
A novel OPA1 mutation responsible for autosomal dominant optic atrophy with high frequency hearing loss in a Chinese family.
Клинический случайСтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод пока не подготовлен
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Chen Suqin, Zhang Yanling, Wang Yiming, Li Weili, Huang Shuang, Chu Xin, Wang Lei, Zhang Mei, Liu Zuguo
Аннотация
PURPOSE: To investigate the genetic findings and phenotypic characters of autosomal dominant optic atrophy (ADOA).
DESIGN: Case report and experimental study.
METHODS: Molecular genetic analysis and clinical examinations were performed in a Chinese family with ADOA. Mutations in OPA1 were detected by direct sequencing. Haplotypes were constructed and compared with the phenotypes in the family.
RESULTS: Nine family members were diagnosed with ADOA and some of them were accompanied with hearing loss and/or high myopia. A novel heterozygous mutation, c.2848_2849delGA(p.Asp950CysfsX4), was detected in all ADOA patients. The mutation and the mutation bearing haplotype cosegregated with the nine affected members. One family member had high myopia without vision or hearing loss. This patient along with unaffected ones did not harbor the mutation.
CONCLUSIONS: A novel mutation, c.2848_2849delGA in OPA1, was identified in a Chinese family with ADOA. This mutation is associated with hearing loss, but likely not high myopia.
DESIGN: Case report and experimental study.
METHODS: Molecular genetic analysis and clinical examinations were performed in a Chinese family with ADOA. Mutations in OPA1 were detected by direct sequencing. Haplotypes were constructed and compared with the phenotypes in the family.
RESULTS: Nine family members were diagnosed with ADOA and some of them were accompanied with hearing loss and/or high myopia. A novel heterozygous mutation, c.2848_2849delGA(p.Asp950CysfsX4), was detected in all ADOA patients. The mutation and the mutation bearing haplotype cosegregated with the nine affected members. One family member had high myopia without vision or hearing loss. This patient along with unaffected ones did not harbor the mutation.
CONCLUSIONS: A novel mutation, c.2848_2849delGA in OPA1, was identified in a Chinese family with ADOA. This mutation is associated with hearing loss, but likely not high myopia.