ArticleInvestigative ophthalmology & visual science2011
Expansion of the CHN1 strabismus phenotype.
Article in Investigative ophthalmology & visual science, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
19 citing papers in PubMed, 48 citations in OpenAlex.
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- A Treatment Approach in Congenital Fibrosis of Extraocular Muscles.Medical archives (Sarajevo, Bosnia and Herzegovina) · 2023Article
- Axonal Growth Abnormalities Underlying Ocular Cranial Nerve Disorders.Annual review of vision science · 2021Review
- Article
- Identification of a novel CHN1 p.(Phe213Val) variant in a large Han Chinese family with congenital Duane retraction syndrome.Scientific reports · 2020Article
- Decreased ACKR3 (CXCR7) function causes oculomotor synkinesis in mice and humans.Human molecular genetics · 2019Article
- Regulators of Rho GTPases in the Nervous System: Molecular Implication in Axon Guidance and Neurological Disorders.International journal of molecular sciences · 2019Review
- Ocular congenital cranial dysinnervation disorders (CCDDs): insights into axon growth and guidance.Human molecular genetics · 2017Review
- Mutant α2-chimaerin signals via bidirectional ephrin pathways in Duane retraction syndrome.The Journal of clinical investigation · 2017Article
- Duane retraction syndrome: causes, effects and management strategies.Clinical ophthalmology (Auckland, N.Z.) · 2017Review
- The Discovery and Validation of Biomarkers for the Diagnosis of Esophageal Squamous Dysplasia and Squamous Cell Carcinoma.Cancer prevention research (Philadelphia, Pa.) · 2016Article
- Absence of CHN1 in two patients with a bilateral absence of cranial nerves IV and VI.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2015Article
- Combined bilateral absence of trochlear and abducens nerve.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2014Article
- Functional magnetic resonance imaging of horizontal rectus muscles in esotropia.Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus · 2013Article
- Responses of cells in the midbrain near-response area in monkeys with strabismus.Investigative ophthalmology & visual science · 2012Article
- The genetic basis of incomitant strabismus: consolidation of the current knowledge of the genetic foundations of disease.Seminars in ophthalmologyReview
- Role of Abelson Helper Integration Site 1, Nebulin, and Paired Box 3 Genes in the Development of Nonsyndromic Strabismus in a Series of Iranian Families: Sequence Analysis and Systematic Review of the Genetics of Nonsyndromic Strabismus.Journal of current ophthalmologyReview
Corrections and comments
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Authors and funding
8 authors at 5 institutions in 3 countries.
Funding
Abstract
purposeHyperactivating CHN1 mutations have been described in individuals with Duane retraction syndrome with or without vertical gaze abnormalities. This was a study of five family members with distinctive ocular dysmotility patterns that co-segregated with a novel hyperactivating CHN1 mutation.
methodsParticipating members of a family segregating pleomorphic incomitant strabismus underwent ophthalmic examinations, and several underwent high-resolution magnetic resonance imaging (MRI) of the orbits and brain stem. Participant DNA was extracted and amplified for haplotype analysis encompassing the CHN1 region on chromosome 2q31.1, and mutation analysis of the CHN1 gene, which encodes the Rac-GAP signaling protein α2-chimaerin. In vitro functional studies of the co-inherited mutation were performed, including a Rac-GTP activation assay, quantification of α2-chimaerin translocation, and co-immunoprecipitation.
resultsAll five clinically affected family members exhibited monocular or binocular supraduction deficits, three in the absence of Duane retraction syndrome. MRI in four affected individuals demonstrated small or absent abducens nerves in all four, small oculomotor nerve in one, and small optic nerves in three. Superior oblique muscle volume was also decreased in three of the individuals, supporting trochlear nerve hypoplasia. Strabismus segregated with the CHN1 locus and affected individuals harbored a c.443A>T CHN1 mutation (p.Y148F). In vitro, this novel mutation behaved similarly to previously reported CHN1 mutations underlying familial Duane syndrome, hyperactivating α2-chimaerin by enhancing its dimerization and membrane association and lowering total intracellular Rac-GTP.
conclusionsAnalysis of the current pedigree expands the phenotypic spectrum of hyperactivating CHN1 mutations to include vertical strabismus and supraduction deficits in the absence of Duane retraction syndrome.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.