Chromosomal microarray analysis of patients with Duane retraction syndrome
- 112 Downloads
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.
Twenty patients with DS were investigated using high-resolution chromosomal microarray analysis (CMA) (Affymetrix CytoScan Array 750 K). Conventional cytogenetic analysis was also performed.
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.
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.
KeywordsDuane retraction syndrome Chromosomal microarray (CMA) Copy number variation (CNV)
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.
Compliance with ethical standards
Conflict of interest
The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.
- 5.Mehel E, Quére MA, Lavenant F, Pechereau A (1996) Epidemiological and clinical aspects of Stilling-Turk-Duane syndrome. J Fr Ophtalmol 19(8–9):533–542Google Scholar
- 14.Shaffer LG, Slovak ML, Campbell LJISCN (2009) An international system for human cytogenetic nomenclature: recommendations of the international standing committee on human cytogenetic nomenclature. S. Karger, BaselGoogle Scholar
- 16.Hochstenbach R, van Binsbergen E, Engelen J, Nieuwint A, Polstra A, Poddighe P et al (2009) Array analysis and karyotyping: workflow consequences based on a retrospective study of 36,325 patients with idiopathic developmental delay in the Netherlands. Eur J Med Genet 52(4):161–169. https://doi.org/10.1016/j.ejmg.2009.03.015 CrossRefGoogle Scholar
- 23.NBPF14 neuroblastoma breakpoint family member 14 [Homo sapiens (human) ] (2018) Available at: http://www.ncbi.nlm.nih.gov/gene?cmd=Retrieve&dopt=full_report&list_uids=25832. Accessed 4 Mar 2018
- 24.HMX1 H6 family homeobox 1 [Homo sapiens (human)] (2018) Available at: http://www.ncbi.nlm.nih.gov/gene/3166. Accessed 11 Mar 2018