Putative digenic inheritance of heterozygous RP1L1 and C2orf71 null mutations in syndromic retinal dystrophy.

ABSTRACT:

Background

Retinitis pigmentosa (RP) is the most common cause of inherited retinal degeneration and can occur in non-syndromic and syndromic forms. Syndromic RP is accompanied by other symptoms such as intellectual disability, hearing loss, or congenital abnormalities. Both forms are known to exhibit complex genetic interactions that can modulate the penetrance and expressivity of the phenotype.

Materials and methods

In an individual with atypical RP, hearing loss, ataxia and cerebellar atrophy, whole exome sequencing was performed. The candidate pathogenic variants were tested by developing an in vivo zebrafish model and assaying for retinal and cerebellar integrity.

Results

Exome sequencing revealed a complex heterozygous protein-truncating mutation in RP1L1, p.[(Ly

SUBMITTER: Liu YP 

PROVIDER: S-EPMC5967407 | biostudies-literature | 2017 Mar-Apr

REPOSITORIES: biostudies-literature