Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders.

ABSTRACT:

Purpose

This study aimed to identify genetic etiologies and genotype/phenotype associations for unsolved ocular congenital cranial dysinnervation disorders (oCCDDs).

Methods

We coupled phenotyping with exome or genome sequencing of 467 probands (550 affected and 1108 total individuals) with genetically unsolved oCCDDs, integrating analyses of pedigrees, human and animal model phenotypes, and de novo variants to identify rare candidate single-nucleotide variants, insertion/deletions, and structural variants disrupting protein-coding regions. Prioritized variants were classified for pathogenicity and evaluated for genotype/phenotype correlations.

Results

Analyses elucidated phenotypic subgroups, identified pathogenic/likely pathogenic variant(s) in 43 of 467 probands (9

SUBMITTER: Jurgens JA 

PROVIDER: S-EPMC11739428 | biostudies-literature | 2025 Apr

REPOSITORIES: biostudies-literature