ISSN 1306-0015 | E-ISSN 1308-6278
Original Article
Research of genetic bases of hereditary non-syndromic hearing loss
1 Department of Medical Genetics, Erciyes University Faculty of Medicine, Kayseri, Turkey  
2 Department of Pediatrics, Division of Pediatric Genetic Diseases, Ankara University Faculty of Medicine, Ankara, Turkey  
3 Division of Human Genetics, John T. Macdonald, Miami University Miller Medical Faculty, Miami, USA  
4 Division of Odiology, Kayseri Education and Research Hospital, Kayseri, Turkey  
5 Department of Otolaryngology, Erciyes University Faculty of Medicine, Kayseri, Turkey  
Turk Pediatri Ars 2017; 52: 122-132
DOI: 10.5152/TurkPediatriArs.2017.4254
Key Words: Hearing loss, microarray, sequence, single nucleotide polymorphism

Aim: Hearing loss is the most common sensory disorder that affects approximately one per 1000 live births. With this project, we aimed to identify gene variants that were common causes of hearing loss in Turkey to contribute to the planning of genetic screening programs for hearing loss, as well as to improve genetic counseling to affected families. 


Material and Methods: Twenty-one families with at least two affected individuals and parental consanguinity who presented with non-syndromic severe-to-profound sensorineural hearing loss were included in this study. We first screened for mutations in GJB2 and mitochondrial DNA 12S RNA genes. Subsequently, we genotyped the TMIE c.250C>T and SNP markers flanking the SLC26A4, MYO7A, MYO15A, OTOF, CDH23, TMIE, TECTA, PCDH15, TMC1, TMPRSS3, TMHS genes in the remaining twelve families without mutations in GJB2.


Results: Screening for mutations in GJB2 gene showed c.[35delG];[35delG] mutation in four families, c.[35delG];[507C>A] mutation in two families, c.[35delG];[-23+1G>A] mutation in one family, and c.457G>A heterozygous mutation in one family. Genotyping SNP markers showed the c.[250C>T];[250C>T] mutation in TMIE in one family. A homozygous region with SNP genotypes was detected with the OTOF gene in one family, the TMPRSS3 gene in another family, and also a homozygous region was detected with TMHS, OTOF, and TMPRSS3 genes in another family.


Conclusions: Further research will be required to determine the genetic bases of hearing loss in families with non-syndromic hearing loss. 


Cite this article as: Subaşıoğlu A, Duman D, Sırmacı A, et al. Research of genetic bases of hereditary non-syndromic hearing loss. Turk Pediatri Ars 2017; 52: 122-32.

Key Words
Author’s Corner
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