A genetic investigation in five Chinese families with keratoconus.

ABSTRACT:

Background

This study investigated the genetic characteristics of five Chinese families with keratoconus (KC).

Methods

In the five families affected by KC, medical records, clinical observations, and blood samples were collected from all individuals. All KC family members (n = 20) underwent both whole exome sequencing of genomic DNA and Sanger sequencing to confirm the variants. Online software was utilized to analyze all variants, and the online server I-TASSER was employed for in silico predictions of the three-dimensional protein structures of the variants. The newly discovered variants and single nucleotide polymorphisms were further examined in 322 sporadic KC patients.

Results

The Pentacam tomographic composite index in those affected first-degree

SUBMITTER: Lin Q 

PROVIDER: S-EPMC11376248 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature