Identification of genetic variants in two families with Keratoconus.

ABSTRACT:

Background

This research investigated the genetic characteristic of two Chinese families with keratoconus (KC).

Methods

For all people in the two families with KC, their history, clinical data, and peripheral blood were collected. One hundred healthy participants without KC and 112 sporadic KC patients were recruited as the controls. Whole exome sequencing of the genomic DNA and polymerase chain reaction were conducted for all the controls and family members to verify the variants. Functional analyses of the variants was performed using the software programs.

Results

A missense tuberous sclerosis 1 (TSC1) variant g.135797247A > G (c.622A > G, p.Ser208Gly) was detected in family 1. A single nucleotide polymorphism (SNP) rs761232139 (p.Gly235Arg) in aldehyde dehydrogena

SUBMITTER: Lin Q 

PROVIDER: S-EPMC10664684 | biostudies-literature | 2023 Nov

REPOSITORIES: biostudies-literature