NMNAT1 mutations cause Leber congenital amaurosis

• Published in: Nature genetics Vol. 44; no. 9; pp. 1040 - 1045
• Main Authors: Falk, Marni J, Zhang, Qi, Nakamaru-Ogiso, Eiko, Kannabiran, Chitra, Fonseca-Kelly, Zoe, Chakarova, Christina, Audo, Isabelle, Mackay, Donna S, Zeitz, Christina, Borman, Arundhati Dev, Staniszewska, Magdalena, Shukla, Rachna, Palavalli, Lakshmi, Mohand-Said, Saddek, Waseem, Naushin H, Jalali, Subhadra, Perin, Juan C, Place, Emily, Ostrovsky, Julian, Xiao, Rui, Bhattacharya, Shomi S, Consugar, Mark, Webster, Andrew R, Sahel, José-Alain, Moore, Anthony T, Berson, Eliot L, Liu, Qin, Gai, Xiaowu, Pierce, Eric A
• Format: Journal Article
• Language: English
• Published: New York Nature Publishing Group US 01.09.2012; Nature Publishing Group
• Subjects: 631/208/2489/144; 692/699/375/366; Agriculture; Animal Genetics and Genomics; Base Sequence; Bioinformatics; Biological and medical sciences; Biomedicine; Cancer Research; Case-Control Studies; Causes of; Child; Child, Preschool; Children & youth; DNA Mutational Analysis; Enzymatic activity; Family; Female; Fundamental and applied biological sciences. Psychology; Gene Function; Gene mutations; Genetic aspects; Genetic Predisposition to Disease; Genetics; Genetics of eukaryotes. Biological and molecular evolution; Health aspects; Hospitals; Human Genetics; Humans; Leber Congenital Amaurosis - complications; Leber Congenital Amaurosis - genetics; Leber's congenital amaurosis; letter; Liquid chromatography; Male; Medical research; Medical sciences; Metabolic disorders; Mutation; Mutation - physiology; Nicotinamide-Nucleotide Adenylyltransferase - genetics; Nicotinamide-Nucleotide Adenylyltransferase - physiology; Ophthalmology; Pedigree; Retinal Degeneration - complications; Retinal Degeneration - diagnosis; Retinal Degeneration - genetics; Retinopathies; United Kingdom; France; United States; India; Spain; Eye disease; Leber amaurosis; Retinopathy; Mutation; Congenital; Genetic disease

Eric Pierce, Xiaowu Gai and colleagues identify mutations in NMNAT1 as a new cause of Leber congenital amaurosis, an early-onset form of retinal degeneration. NMNAT1 encodes an isoform of nicotinamide mononucleotide adenylyltransferase, which is required for nicotinamide adenine dinucleotide (NAD +...