Consanguinity-based analysis of exome sequencing yields likely genetic causes in patients with inherited retinal dystrophy.

ABSTRACT:

Background

Consanguineous families have a relatively high prevalence of genetic disorders caused by bi-allelic mutations in recessive genes. This study aims to evaluate the effectiveness and efficiency of a consanguinity-based exome sequencing approach to capturing genetic mutations in inherited retinal dystrophy families with consanguineous marriages.

Methods

Ten unrelated consanguineous families with a proband affected by inherited retinal dystrophy were recruited in this study. All participants underwent comprehensive ophthalmic examinations. Whole exome sequencing was performed, followed by a homozygote-prior strategy to rapidly filter disease-causing mutations. Bioinformatic prediction of pathogenicity, Sanger sequencing and co-segregation analysis were carried out for

SUBMITTER: Shen RJ 

PROVIDER: S-EPMC8204521 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature