ArticleArchives of ophthalmology (Chicago, Ill. : 1960)2011
Two novel CHN1 mutations in 2 families with Duane retraction syndrome.
Article in Archives of ophthalmology (Chicago, Ill. : 1960), 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 38 citations in OpenAlex.
- Evolution and development of extraocular motor neurons, nerves and muscles in vertebrates.Annals of anatomy = Anatomischer Anzeiger : official organ of the Anatomische Gesellschaft · 2024Review
- Two novel CHN1 variants identified in Duane retraction syndrome pedigrees disrupt development of ocular motor nerves in zebrafish.Journal of human genetics · 2024Article
- Chromosomal microarray analysis of patients with Duane retraction syndrome.International ophthalmology · 2019Article
- Congenital cranial dysinnervation disorders.International ophthalmology · 2017Review
- Mutant α2-chimaerin signals via bidirectional ephrin pathways in Duane retraction syndrome.The Journal of clinical investigation · 2017Article
- What's new for us in strabismus?Indian journal of ophthalmology · 2017Review
- Strabismus genetics across a spectrum of eye misalignment disorders.Clinical genetics · 2014Review
- Diversified clinical presentations associated with a novel sal-like 4 gene mutation in a Chinese pedigree with Duane retraction syndrome.Molecular vision · 2013Article
- Expansion of the CHN1 strabismus phenotype.Investigative ophthalmology & visual science · 2011Article
- Allelic diversity in human developmental neurogenetics: insights into biology and disease.Neuron · 2010Review
- The genetic basis of incomitant strabismus: consolidation of the current knowledge of the genetic foundations of disease.Seminars in ophthalmologyReview
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
Abstract
objectiveTo determine the genetic cause of Duane retraction syndrome (DRS) in 2 families segregating DRS as a dominant trait.
methodsMembers of 2 unrelated pedigrees were enrolled in a genetic study. Linkage analysis was performed on the CHN1 locus. Probands and family members were screened for CHN1 mutations.
resultsThe 6 affected individuals in the 2 pedigrees have DRS. Both pedigrees are consistent with linkage to the locus. Sequence analysis revealed 2 novel heterozygous missense CHN1 mutations, c.422C>T and c.754C>T, predicted to result in α2-chimaerin amino acid substitutions P141L and P252S, respectively.
conclusionsGenetic analysis of 2 pedigrees revealed 2 novel DRS mutations, bringing the number of DRS pedigrees known to harbor CHN1 from 7 to 9. Both mutations alter residues that participate in intramolecular interactions that stabilize the inactive, closed conformation of α2-chimaerin and, thus, are predicted to result in its hyperactivation. Moreover, amino acid residue P252 was previously reported to be altered to a different residue in a previously reported DRS pedigree; thus, this is the first report of 2 CHN1 mutations altering the same residue, further supporting a gain-of-function etiology. CLINICAL RELEVANCE: Members of families segregating DRS as an autosomal dominant trait should be screened for mutations in the CHN1 gene, enhancing genetic counseling and permitting earlier diagnosis.
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