GWAS implicates NMNAT1 in Leber congential amaurosis.

Two reports in the recent issue of Nature Genetics implicate the human gene NMNAT1 in Leber congenital amaurosis, rare inherited eye disease.

Chiang PW, Wang J, Chen Y, Fu Q, Zhong J, Chen Y, Yi X, Wu R, Gan H, Shi Y, Chen Y, Barnett C, Wheaton D, Day M, Sutherland J, Heon E, Weleber RG, Gabriel LA, Cong P, Chuang K, Ye S, Sallum JM, Qi M. Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis. Nat Genet. 2012 Jul 29. doi:10.1038/ng.2370. PubMed PMID: 22842231.

Koenekoop RK, Wang H, Majewski J, Wang X, Lopez I, Ren H, Chen Y, Li Y, Fishman GA, Genead M, Schwartzentruber J, Solanki N, Traboulsi EI, Cheng J, Logan CV, McKibbin M, Hayward BE, Parry DA, Johnson CA, Nageeb M; Finding of Rare Disease Genes (FORGE) Canada Consortium, Poulter JA, Mohamed MD, Jafri H, Rashid Y, Taylor GR, Keser V, Mardon G, Xu H, Inglehearn CF, Fu Q, Toomes C, Chen R. Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration. Nat Genet. 2012 Jul 29. doi: 10.1038/ng.2356. PubMed PMID: 22842230.

The fly ortholog of NMNAT1 is Nmnat (for Nicotinamide mononucleotide adenylyltransferase). As annotated in FlyBase, phenotypes observed for mutations in Drosophila Nmnat include phenotypes associated with the eye.

More info on the human genetics of Leber congential amaurosis is available here.