Chromosomal microarray analysis of patients with Duane retraction syndrome

Niyaz L., Tural Ş., Yucel Ö., Can E., Arıtürk N., Celik Z. B., ...Daha Fazla

INTERNATIONAL OPHTHALMOLOGY, cilt.39, sa.9, ss.2057-2067, 2019 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 39 Sayı: 9
  • Basım Tarihi: 2019
  • Doi Numarası: 10.1007/s10792-018-1042-8
  • Dergi Adı: INTERNATIONAL OPHTHALMOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.2057-2067
  • Anahtar Kelimeler: Duane retraction syndrome, Chromosomal microarray (CMA), Copy number variation (CNV), CHN1 MUTATIONS
  • Ondokuz Mayıs Üniversitesi Adresli: Evet

Özet

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.