Diagnostic Efficiency of Clinical Exome Solution Panel in patients with Hearing loss/Hereditary Deafness by using Next Generation Sequencing

Temel Ş. G., Alemdar A., Yılmaz M., Aliyeva L., Sag S. O.

EUROPEAN JOURNAL OF HUMAN GENETICS, cilt.28, ss.190-191, 2020 (SCI-Expanded) identifier

  • Yayın Türü: Makale / Özet
  • Cilt numarası: 28
  • Basım Tarihi: 2020
  • Dergi Adı: EUROPEAN JOURNAL OF HUMAN GENETICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, CAB Abstracts, EMBASE, MEDLINE, Veterinary Science Database
  • Sayfa Sayıları: ss.190-191
  • Bursa Uludağ Üniversitesi Adresli: Evet

Özet

Hearing loss (HL)/Hereditary Deafness (HD) is a heterogeneous disease which multiple genes have been found to be implicated in the disease etiopathogenesis. Genetic diagnosis is highly important for HL/HD patients in order to ensure the etiology of the condition and counsel the patients properly. In this study, 41 patients (22M/19F) who admitted to our clinic between February 2018 and November 2019 with HL/HD were screened for 110 genes related with syndromic/non-syndromic HL/HD. NGS is considered to be the best practice for diagnosis. Large gene panels also can evaluate non-prevelant genes and candidate variants specific to populations. All exons and exon-intron boundaries were amplifed by using Clinical Exome (Sophia Genetics) Solution (CES) kit in MiSeq NGS instrument. Variant analyis (SNV, Indel and CNV) and annotations were performed by Sophia DDM platform, classified according to ACMG criteria with in-silico tools and also investigated by HGMD Professional 2019-4 and other available online bioinformatic tools. We identified CNV in three patients, 26 pathogenic and likely pathogenic variants in 19 of 41 HL/HD patients (46 %) in 10 different genes. Similarly, 23 variants of uncertain significance are determined in 18 of 41 HL/HD patients (43 %) in 18 distinct genes. Besides these variations, we found 31 novel variations that are not reported before in literature or databases. Our study affirms that genetic screening of patients with HL by using CES panel not only easily diagnoses but also help counseling the patients and their family for their future risk of developing the disease.

S.G. Temel: None. A. Alemdar: None. M. Yılmaz: None. L. Aliyeva: None. S. Ozemri Sag: None.