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

ABSTRACT:

Purpose

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 pedigrees 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 43/467 probands (9.2%), and prioritized variants of uncertain significan

SUBMITTER: Jurgens JA 

PROVIDER: S-EPMC10996726 | biostudies-literature | 2024 Mar

REPOSITORIES: biostudies-literature