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Chromosomal microarray analysis of patients with Duane retraction syndrome

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Abstract

Purpose

Duane 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.

Methods

Twenty patients with DS were investigated using high-resolution chromosomal microarray analysis (CMA) (Affymetrix CytoScan Array 750 K). Conventional cytogenetic analysis was also performed.

Results

All 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.

Conclusions

This 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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Acknowledgements

This study was supported by the Ondokuz Mayis University Research Foundation (PYO.TIP.1901.15.002). The funding organization had no role in the design or conduct of this research.

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Authors and Affiliations

  1. Department of Ophthalmology, Faculty of Medicine, Ondokuz Mayis University, 55200, Samsun, Turkey

    Leyla Niyaz, Ozlem Eski Yucel, Ertuğrul Can & Nursen Ariturk

  2. Department of Medical Biology and Genetics, Faculty of Medicine, Ondokuz Mayis University, Samsun, Turkey

    Sengul Tural, Zulfinaz B. Celik, Esra Tekcan & Nurten Kara

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  1. Leyla Niyaz
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  2. Sengul Tural
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  3. Ozlem Eski Yucel
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Correspondence to Leyla Niyaz.

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Niyaz, L., Tural, S., Eski Yucel, O. et al. Chromosomal microarray analysis of patients with Duane retraction syndrome. Int Ophthalmol 39, 2057–2067 (2019). https://doi.org/10.1007/s10792-018-1042-8

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  • DOI: https://doi.org/10.1007/s10792-018-1042-8

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