Variations in NPHP5 in patients with nonsyndromic leber congenital amaurosis and Senior-Loken syndrome

EM Stone, AV Cideciyan, TS Aleman… - Archives of …, 2011 - jamanetwork.com
Objective To investigate whether mutations inNPHP5can cause Leber congenital amaurosis
(LCA) without early-onset renal disease. Methods DNA samples from 276 individuals with
nonsyndromic LCA were screened for variations in theNPHP5gene. Each had been
previously screened for mutations in 8 known LCA genes without identifying a disease-
causing genotype. Results Nine of the 276 LCA probands (3.2%) harbored 2 plausible
disease-causing mutations (7 different alleles) inNPHP5. Four of these have been …