Clinical and Genetic Landscape of Ectopia Lentis Based on a Cohort of Patients From 156 Families.

ABSTRACT:

Purpose

To extend the mutation spectrum and explore the characteristics of genotypes and ocular phenotypes in ectopia lentis (EL).

Methods

Variants in all 14 reported EL-associated genes were selected from in-house data sets as well as literature review, and available clinical data were analyzed.

Results

Likely pathogenic variants in three genes were identified in 156 unrelated families with EL from the in-house cohort, of which 97.4% resulted from variants in FBN1, whereas the remaining were caused by variants in ADAMTSL4 (1.3%) and LTBP2 (1.3%). A comparative analysis of the in-house data and literature review suggested several characteristics: (1) a higher proportion of cysteine involvement variants in FBN1, either variants introducing or eliminating cysteine, and

SUBMITTER: Guo D 

PROVIDER: S-EPMC10777873 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature