ArticleGenetics in medicine : official journal of the American College of Medical Genetics2025
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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12 citing papers in PubMed.
- A Cell Type-Specific Role for Tubb6 in Ciliogenesis of Xenopus Epidermal Multiciliated Cells.Cytoskeleton (Hoboken, N.J.) · 2026Article
- Systematic reanalysis of next-generation sequencing data in 101 neuromuscular disorder families enhances diagnostic yield, reveals intronic variants, and identifies a novel disease gene.Journal of neurology · 2026Article
- Structural variant discovery and diagnostic impact in rare diseases from short-read and long-read sequencing.medRxiv : the preprint server for health sciences · 2026Article
- Multimodality Craniofacial Phenotyping of Congenital Facial Weakness Disorders.The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association · 2026Article
- Structural basis of nonmuscle myosin-2 autoinhibition mechanisms.bioRxiv : the preprint server for biology · 2025Article
- Strabismus in Genetic Syndromes: A Review.Clinical & experimental ophthalmology · 2025Review
- Gene Identification for Ocular Congenital Cranial Motor Neuron Disorders Using Human Sequencing, Zebrafish Screening, and Protein Binding Microarrays.Investigative ophthalmology & visual science · 2025Article
- Therapeutic Potential of TUBB6 Inhibition for Hematoma Reduction, Microtubule Stabilization, and Neurological Recovery in an In Vivo Model of Intracerebral Hemorrhage.Neuromolecular medicine · 2025Article
- Zebrafish as a model to understand extraocular motor neuron diversity.Current opinion in neurobiology · 2025Review
- Systematic phenotype and genotype characterization of Moebius syndrome.Genetics in medicine open · 2025Article
- Levator muscle changes in Marcus Gunn jaw-winking syndrome and other forms of ocular congenital cranial dysinnervation disorder.Arquivos brasileiros de oftalmologia · 2025Article
- A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disorders.Nature communications · 2024Article
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Authors and funding
41 authors.
Funding
Abstract
purposeThis study aimed to identify genetic etiologies and genotype/phenotype associations for unsolved ocular congenital cranial dysinnervation disorders (oCCDDs).
methodsWe 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.
resultsAnalyses elucidated phenotypic subgroups, identified pathogenic/likely pathogenic variant(s) in 43 of 467 probands (9.2%), and prioritized variants of uncertain significance in 70 of 467 additional probands (15.0%). These included known and novel variants in established oCCDD genes, genes associated with syndromes that sometimes include oCCDDs (eg, MYH10 [HGNC:7568], KIF21B [HGNC:29442], TGFBR2 [HGNC:11773], and TUBB6 [HGNC:20776]), genes that fit the syndromic component of the phenotype but had no prior oCCDD association (eg, CDK13 [HGNC:1733], TGFB2 [HGNC:11768]), genes with no reported association with oCCDDs or the syndromic phenotypes (eg, TUBA4A [HGNC:12407], KIF5C [HGNC:6325], CTNNA1 [HGNC:2509], KLB [HGNC:15527], FGF21 [HGNC:3678]), and genes associated with oCCDD phenocopies that had resulted in misdiagnoses.
conclusionThis study suggests that unsolved oCCDDs are clinically and genetically heterogeneous disorders often overlapping other Mendelian conditions and nominates many candidates for future replication and functional studies.
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