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

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Apr 2025

Jurgens Julie A, Barry Brenda J, Chan Wai-Man, MacKinnon Sarah, Whitman Mary C, Matos Ruiz Paola M, Pratt Brandon M, England Eleina M, Pais Lynn, Lemire Gabrielle, Groopman Emily, Glaze Carmen, Russell Kathryn A, Singer-Berk Moriel, Di Gioia Silvio Alessandro, Lee Arthur S, Andrews Caroline, Shaaban Sherin, Wirth Megan M, Bekele Sarah, Toffoloni Melissa, Bradford Victoria R, Foster Emma E, Berube Lindsay, Rivera-Quiles Cristina, Mensching Fiona M, Sanchis-Juan Alba, Fu Jack M, Wong Isaac, Zhao Xuefang, Wilson Michael W, Weisburd Ben, Lek Monkol, Brand Harrison, Talkowski Michael E, MacArthur Daniel G, O'Donnell-Luria Anne, Robson Caroline D, Hunter David G, Engle Elizabeth C

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 39033378
DOI: 10.1016/j.gim.2024.101216
PMCID: PMC11739428

Genes

CDK13
CTNNA1
FGF21
KIF21B
KIF5C
KLB
MYH10
TGFB2
TGFBR2
TUBA4A
TUBB6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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