Genetic testing in four Indian families with suspected Stickler syndrome.

ABSTRACT:

Purpose

Stickler syndrome is associated with the development of rhegmatogenous retinal detachment (RRD), and often presents with ocular, auditory, skeletal, and orofacial abnormalities. Molecular analysis has proven effective in diagnosis, confirmation and classification of the disease. We aimed to describe the utility of next-generation sequencing (NGS) in genetic analysis of four Indian families with suspected Stickler syndrome.

Methods

The index cases presented with retinal detachment with family history. Genetic analysis in the index case was performed by next-generation sequencing of inherited retinal degeneration genes, and validated by Sanger sequencing followed by co-segregation analysis in the other family members.

Results

Twenty patients were included for th

SUBMITTER: Kandeeban S 

PROVIDER: S-EPMC9426114 | biostudies-literature | 2022 Jul

REPOSITORIES: biostudies-literature