Identification of novel variants in Turkish families with non-syndromic congenital cataracts using whole-exome sequencing.

Türkyılmaz A., Kaplan A. T., Öskan Yalçın S., Sağer S. G., Şimşek Ş.

International ophthalmology, cilt.43, sa.12, ss.4573-4583, 2023 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 43 Sayı: 12
  • Basım Tarihi: 2023
  • Doi Numarası: 10.1007/s10792-023-02857-1
  • Dergi Adı: International ophthalmology
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, BIOSIS, CAB Abstracts, EMBASE
  • Sayfa Sayıları: ss.4573-4583
  • Anahtar Kelimeler: Congenital cataract, DNMBP gene, Molecular genetics, Whole-exome sequencing
  • Karadeniz Teknik Üniversitesi Adresli: Evet

Özet

PurposeThe present study aimed to identify the molecular etiology of non-syndromic congenital cataract (CC) using whole-exome sequencing (WES) analysis.MethodsIn the present study, ophthalmologic results and pedigree analysis of the families of 12 patients with non-syndromic CC were evaluated. WES analysis was conducted after DNA was isolated from peripheral blood samples obtained from the patients.ResultsTwelve non-syndromic probands (10 males and 2 females) with bilateral CC were included in the study. Patient age ranged between 1 and 11 months. WES analysis showed pathogenic/likely pathogenic variant in 7 (58%) of the 12 families and variant of unknown significance (VUS) in 5 (42%) of them. All the 13 different variants detected in 9 different CC-related genes were co-segregated with the disease. Autosomal dominant inheritance was found in 7 (58%) of the families and autosomal recessive inheritance was found in 5 (42%) of them.ConclusionTo the best of our knowledge, the present research is one of the limited numbers of studies in the Turkish population in which genetically heterogeneous non-syndromic CC was investigated using WES analysis. Novel variants that we identified in DNMBP, LSS, and WFS1 genes, which are rarely associated with the CC phenotype, have contributed to the mutation spectrum of this disease. Identifying the relevant molecular genetic etiology allows accurate genetic counseling to be provided to the families.