Targeted next-generation sequencing analysis in Italian patients with keratoconus.

ABSTRACT:

Objective

To report variants in 26 candidate genes and describe the clinical features of Italian patients with keratoconus (KC).

Subjects/methods

Sixty-four patients with a confirmed diagnosis of KC were enrolled in this genetic association study. Patients were classified into two study groups according to whether they had a confirmed diagnosis of progressive or stable KC. A purpose-developed Next Generation Sequencing (NGS) panel was used to identify and analyse the coding exons and flanking exon/intron boundaries of 26 genes known to be associated with KC and corneal dystrophies. Interpretation of the pathogenic significance of variants was performed using in silico predictive algorithms.

Result

The targeted NGS research identified a total of 167 allelic variants of

SUBMITTER: Lombardo M 

PROVIDER: S-EPMC11383948 | biostudies-literature | 2024 Sep

REPOSITORIES: biostudies-literature