Advanced molecular approaches pave the road to a clear-cut diagnosis of hereditary retinal dystrophies.

ABSTRACT:

Purpose

The aim of this study was to identify the molecular genetic basis of hereditary retinal dystrophies (HRDs) in five unrelated Iranian families.

Methods

Whole exome sequencing and Sanger sequencing were performed in all families. Variants were analyzed using various bioinformatics databases and software.

Results

Based on the selected strategies, we identified potentially causative variants in five families with HRDs: the novel homozygous deletion mutation c.586_589delTTTG (p.F196Sfs*56) in the TTC8 gene of family A, the novel homozygous missense mutation c.2389T>C (p.S797P) in the CRB1 gene in family B, the novel homozygous frameshift mutation c.2707dupA (p.S903Kfs*66) in the LRP5 gene in family C, the novel homozygous splice mutation c.584-

SUBMITTER: Ravesh Z 

PROVIDER: S-EPMC6197863 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature