Research of genetic bases of hereditary non-syndromic hearing loss

Aslı Subaşıoğlu, Duygu Duman, Aslı Sırmacı, Güney Bademci, Fehime Carkıt, Mehmet Akif Somdaş, Mustafa Erkan, Mustafa Tekin, Munis Dündar

Research output: Contribution to journalReview article

1 Citation (Scopus)

Abstract

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.

Original languageEnglish (US)
Pages (from-to)122-132
Number of pages11
JournalTurk Pediatri Arsivi
Volume52
Issue number3
DOIs
StatePublished - Sep 1 2017
Externally publishedYes

Fingerprint

Genetic Research
Hearing Loss
Mutation
Genes
Single Nucleotide Polymorphism
Sensation Disorders
Consanguinity
Sensorineural Hearing Loss
Genetic Counseling
Live Birth
Genetic Testing
Turkey
Mitochondrial DNA
Genotype
RNA

Keywords

  • Hearing loss
  • Microarray
  • Sequence
  • Single nucleotide polymorphism

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Subaşıoğlu, A., Duman, D., Sırmacı, A., Bademci, G., Carkıt, F., Somdaş, M. A., ... Dündar, M. (2017). Research of genetic bases of hereditary non-syndromic hearing loss. Turk Pediatri Arsivi, 52(3), 122-132. https://doi.org/10.5152/TurkPediatriArs.2017.4254

Research of genetic bases of hereditary non-syndromic hearing loss. / Subaşıoğlu, Aslı; Duman, Duygu; Sırmacı, Aslı; Bademci, Güney; Carkıt, Fehime; Somdaş, Mehmet Akif; Erkan, Mustafa; Tekin, Mustafa; Dündar, Munis.

In: Turk Pediatri Arsivi, Vol. 52, No. 3, 01.09.2017, p. 122-132.

Research output: Contribution to journalReview article

Subaşıoğlu, A, Duman, D, Sırmacı, A, Bademci, G, Carkıt, F, Somdaş, MA, Erkan, M, Tekin, M & Dündar, M 2017, 'Research of genetic bases of hereditary non-syndromic hearing loss', Turk Pediatri Arsivi, vol. 52, no. 3, pp. 122-132. https://doi.org/10.5152/TurkPediatriArs.2017.4254
Subaşıoğlu A, Duman D, Sırmacı A, Bademci G, Carkıt F, Somdaş MA et al. Research of genetic bases of hereditary non-syndromic hearing loss. Turk Pediatri Arsivi. 2017 Sep 1;52(3):122-132. https://doi.org/10.5152/TurkPediatriArs.2017.4254
Subaşıoğlu, Aslı ; Duman, Duygu ; Sırmacı, Aslı ; Bademci, Güney ; Carkıt, Fehime ; Somdaş, Mehmet Akif ; Erkan, Mustafa ; Tekin, Mustafa ; Dündar, Munis. / Research of genetic bases of hereditary non-syndromic hearing loss. In: Turk Pediatri Arsivi. 2017 ; Vol. 52, No. 3. pp. 122-132.
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AU - Subaşıoğlu, Aslı

AU - Duman, Duygu

AU - Sırmacı, Aslı

AU - Bademci, Güney

AU - Carkıt, Fehime

AU - Somdaş, Mehmet Akif

AU - Erkan, Mustafa

AU - Tekin, Mustafa

AU - Dündar, Munis

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N2 - 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.

AB - 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.

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KW - Microarray

KW - Sequence

KW - Single nucleotide polymorphism

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