CYP4V2 mutation screening in an Iranian Bietti crystalline dystrophy pedigree and evidence for clustering of CYP4V2 mutations.

ABSTRACT:

Purpose

To report the genetic analysis of an Iranian Bietti crystalline dystrophy (BCD)-affected family, and to review previously reported mutations in the gene and assess the distribution of affected amino acids in the encoded protein.

Methods

The eleven exons of CYP4V2 were sequenced in the DNA of the proband of the Iranian BCD family. The putative disease-causing variation was screened in all affected and non-affected members. BCD causing CYP4V2 mutations previously reported in the literature were compiled, and positions of amino acids affected by nonsense and missense mutations were mapped onto the primary structure of the CYP4V2 protein.

Results

C.1219G > T in CYP4V2 that causes p.Glu407* was identified as cause of BCD in the Iranian family.

SUBMITTER: Darki F 

PROVIDER: S-EPMC6611930 | biostudies-literature | 2019 Jun

REPOSITORIES: biostudies-literature