Exotropic Duane syndrome with synergistic divergence and no mutations in COL25A1

Typical Duane retraction syndrome, a common form of congenital cranial dysinnervation disorder (CCDD), is rarely due to a monogenic mutation. However, the unusual form of exotropic Duane syndrome with synergistic divergence was recently associated with bi-allelic mutations in the gene COL25A1, raisi...

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Published inJournal of AAPOS Vol. 20; no. 6; pp. 542 - 544.e2
Main Authors Khan, Arif O., MD, Shinwari, Jameela M., Bsc, Al-Tassan, Nada A., PhD
Format Journal Article
LanguageEnglish
Published United States Elsevier Inc 01.12.2016
Subjects
Duane Retraction Syndrome - genetics
Humans
Mutation
Non-Fibrillar Collagens - genetics
Ophthalmology
Phenotype
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Summary:Typical Duane retraction syndrome, a common form of congenital cranial dysinnervation disorder (CCDD), is rarely due to a monogenic mutation. However, the unusual form of exotropic Duane syndrome with synergistic divergence was recently associated with bi-allelic mutations in the gene COL25A1, raising the possibility that this particular Duane syndrome phenotype could be a monogenic recessive CCDD. To explore this possibility, we tested 4 consecutive unrelated subjects with the diagnosis for COL25A1 mutations. None harbored pathogenic variants, evidence that exotropic Duane syndrome with synergistic divergence is notspecifically caused by mutations in the gene.▪
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ISSN:1091-8531
1528-3933
DOI:10.1016/j.jaapos.2016.05.019