Article
Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration.
Nature genetics - 1 Sept 2012
Koenekoop Robert K, Wang Hui, Majewski Jacek, Wang Xia, Lopez Irma, Ren Huanan, Chen Yiyun, Li Yumei, Fishman Gerald A, Genead Mohammed, Schwartzentruber Jeremy, Solanki Naimesh, Traboulsi Elias I, Cheng Jingliang, Logan Clare V, McKibbin Martin, Hayward Bruce E, Parry David A, Johnson Colin A, Nageeb Mohammed, Poulter James A, Mohamed Moin D, Jafri Hussain, Rashid Yasmin, Taylor Graham R, Keser Vafa, Mardon Graeme, Xu Huidan, Inglehearn Chris F, Fu Qing, Toomes Carmel, Chen Rui
Abstract excerpt
Leber congenital amaurosis (LCA) is a blinding retinal disease that presents within the first year after birth. Using exome sequencing, we identified mutations in the nicotinamide adenine dinucleotide (NAD) synthase gene NMNAT1 encoding nicotinamide mononucleotide adenylyltransferase 1 in eight families with LCA, including the family in which LCA was originally linked to the LCA9 locus. Notably, all individuals...
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