Missense mutations in the WD40 domain of AHI1 cause non-syndromic retinitis pigmentosa.

ABSTRACT:

Background

Recent findings suggesting that Abelson helper integration site 1 (AHI1) is involved in non-syndromic retinal disease have been debated, as the functional significance of identified missense variants was uncertain. We assessed whether AHI1 variants cause non-syndromic retinitis pigmentosa (RP).

Methods

Exome sequencing was performed in three probands with RP. The effects of the identified missense variants in AHI1 were predicted by three-dimensional structure homology modelling. Ciliary parameters were evaluated in patient's fibroblasts, and recombinant mutant proteins were expressed in ciliated retinal pigmented epithelium cells.

Results

In the three patients with RP, three sets of compound heterozygous variants were detected in

SUBMITTER: Nguyen TT 

PROVIDER: S-EPMC5574394 | biostudies-literature | 2017 Sep

REPOSITORIES: biostudies-literature