Article
A novel missense NMNAT1 mutation identified in a consanguineous family with Leber congenital amaurosis by targeted next generation sequencing.
Gene - 10 Sept 2015
Deng Ying, Huang Hui, Wang Yanping, Liu Zhen, Li Nana, Chen Yanhua, Li Xin, Li Mingrong, Zhou Xiaobo, Mu Dezhi, Zhong Jing, Wu Jing, Su Yan, Yi Xin, Zhu Jun
Abstract excerpt
Leber congenital amaurosis is the earliest onset and most severe inherited retinal dystrophy. Mutations in 21 genes have been identified to be responsible for LCA. To detect the causative variants, we performed targeted next generation sequencing in two affected siblings of a consanguineous Chinese family with suspected LCA. A novel homozygous missense mutation (c.721C>T, p. Pro241Ser) of NMNAT1 has been...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.