A novel start codon mutation of the MERTK gene in a patient with retinitis pigmentosa.

ABSTRACT:

Purpose

Retinitis pigmentosa (RP) is a clinically and genetically heterogeneous group of inherited retinal degenerations characterized by progressive loss of photoreceptor cells and RPE functions. More than 70 causative genes are known to be responsible for RP. This study aimed to identify the causative gene in a patient from a consanguineous family with childhood-onset severe retinal dystrophy.

Methods

To identify the defective gene, whole exome sequencing was performed. Candidate causative variants were selected and validated using Sanger sequencing. Segregation analysis of the causative gene was performed in additional family members. To verify that the mutation has an effect on protein synthesis, an expression vector containing the first ten amino acids of the mutant pro

SUBMITTER: Jinda W 

PROVIDER: S-EPMC4842005 | biostudies-literature | 2016

REPOSITORIES: biostudies-literature