Niyaz Leyla, Tural Sengul, Eski Yucel Ozlem, Can Ertuğrul, Ariturk Nursen, Celik Zulfinaz B, Tekcan Esra, Kara Nurten
Department of Ophthalmology, Faculty of Medicine, Ondokuz Mayis University, 55200, Samsun, Turkey.
Department of Medical Biology and Genetics, Faculty of Medicine, Ondokuz Mayis University, Samsun, Turkey.
Int Ophthalmol. 2019 Sep;39(9):2057-2067. doi: 10.1007/s10792-018-1042-8. Epub 2018 Nov 26.
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.
杜安眼球后退综合征（DS）是一种罕见的先天性斜视，具有遗传异质性。DS的遗传病因并不总是单基因起源；也有各种染色体拷贝数变异（CNV）的报道。我们研究的目的是对DS患者中通过高分辨率染色体微阵列检测到的CNV进行特征分析，包括增益和缺失。
使用高分辨率染色体微阵列分析（CMA）（Affymetrix CytoScan Array 750K）对20例DS患者进行研究。还进行了常规细胞遗传学分析。
通过细胞遗传学分析，所有样本的核型均正常。然而，在我们所有的患者中，使用高分辨率CMA方法检测到了多个CNV，包括增益和缺失。染色体位点1q21.2、2p11.2 - q11.1、2q21.1 - q21.2、4p16.1、7p11.2 - q11.21、14q32.33、17p11.2 - q11.1和20p11.1 - q11.21是最常受影响的区域。
本研究强调了几个染色体区域的CNV与DS有关。我们还强调了DS的遗传异质性。我们的建议是，在接下来的候选基因研究中应重点关注位于最常受影响区域的基因。
