A novel LRAT mutation affecting splicing in a family with early onset retinitis pigmentosa.

ABSTRACT:

Background and purpose

Retinitis pigmentosa is an important cause of severe visual dysfunction. This study reports a novel splicing mutation in the lecithin retinol acyltransferase (LRAT) gene associated with early onset retinitis pigmentosa and characterizes the effects of this mutation on mRNA splicing and structure.

Methods

Genome-wide linkage analysis followed by dideoxy sequencing of the linked candidate gene LRAT was performed in a consanguineous Pakistani family with autosomal recessive retinitis pigmentosa. In silico prediction and minigene assays were used to investigate the effects of the presumptive splicing mutation.

Results

ARRP in this family was linked to chromosome 4q31.21-q32.1 with a maximum LOD score of 5.40. A novel homozygous intronic mutation (NM

SUBMITTER: Chen Y 

PROVIDER: S-EPMC6033202 | biostudies-literature | 2018 Jul

REPOSITORIES: biostudies-literature