Hypomorphic mutations in TRNT1 cause retinitis pigmentosa with erythrocytic microcytosis.

ABSTRACT: Retinitis pigmentosa (RP) is a highly heterogeneous group of disorders characterized by degeneration of the retinal photoreceptor cells and progressive loss of vision. While hundreds of mutations in more than 100 genes have been reported to cause RP, discovering the causative mutations in many patients remains a significant challenge. Exome sequencing in an individual affected with non-syndromic RP revealed two plausibly disease-causing variants in TRNT1, a gene encoding a nucleotidyltransferase critical for tRNA processing. A total of 727 additional unrelated individuals with molecularly uncharacterized RP were completely screened for TRNT1 coding sequence variants, and a second family was identified with two members who exhibited a phenotype that was remarkably similar to the index patie

SUBMITTER: DeLuca AP 

PROVIDER: S-EPMC4690490 | biostudies-literature | 2016 Jan

REPOSITORIES: biostudies-literature