ArticleInternational ophthalmology2019
Chromosomal microarray analysis of patients with Duane retraction syndrome.
Article in International ophthalmology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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2 citing papers in PubMed.
- Association between miR499b A>G gene polymorphism and recurrent pregnancy loss in Turkish women.Revista da Associacao Medica Brasileira (1992) · 2025Article
- miR604A>G gene polymorphism is associated with recurrent pregnancy loss in Turkish women.Revista da Associacao Medica Brasileira (1992) · 2023Article
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Authors and funding
8 authors.
Funding
Abstract
purposeDuane retraction syndrome (DS) is a rare congenital strabismus with genetic heterogeneity. The genetic causes of DS are not always of monogenic origin; various chromosomal copy number variations (CNVs) have also been reported. The objective of our study was to characterize the CNVs, including gains and losses detected by high-resolution chromosomal microarray in patients with DS.
methodsTwenty patients with DS were investigated using high-resolution chromosomal microarray analysis (CMA) (Affymetrix CytoScan Array 750 K). Conventional cytogenetic analysis was also performed.
resultsAll samples revealed normal karyotype by cytogenetic analysis. However, in all our patients, multiple CNVs, including gains and losses, were detected using the high-resolution CMA method. Chromosomal loci 1q21.2, 2p11.2-q11.1, 2q21.1-q21.2, 4p16.1, 7p11.2-q11.21, 14q32.33, 17p11.2-q11.1 and 20p11.1-q11.21 were the most frequently affected regions.
conclusionsThis study emphasized that CNVs in several chromosomal regions are known to be involved in DS. We also underscore the genetic heterogeneity of DS. Our suggestion is that genes located in the most frequently affected regions should be focused on in the following candidate gene studies.
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