Research of genetic bases of hereditary non-syndromic hearing loss

Subaşıoğlu, Aslı; Duman, Duygu; Sırmacı, Aslı; Bademci, Güney; Carkıt, Fehime; Somdas, Mehmet Akıf; Erkan, Mustafa; Tekin, Mustafa; Dündar, Munis

doi:10.5152/turkpediatriars.2017.4254

Cited by 6 publications

(3 citation statements)

References 43 publications

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“…Taken together with the high ratio of compound heterozygosity, this finding suggests that ARNSHL is a health problem not restricted to consanguineous marriages. Some GJB2 mutations reported previously from Turkey were not found in our patient cohort (32). These variants include c.360_362delGAT (p.delE120), c.310_323del14, c.299_300delAT, c.517C>T (p.P173S) and c.238C>A (p.Q80K).…”

Section: Discussionmentioning

confidence: 50%

Gjb2-Related Non-Syndromic Hearing Loss Variants’ Spectrum and Their Frequency in Turkish Population

Güleç¹,

Aslanger²,

Karaman³

et al. 2022

jmed

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Objective: Hearing loss (HL) is one of the most prevalent chronic conditions in children and has consequences in speech, language, education, and social functioning which impede the quality of life. Due to the major involvement of the genetic factors in HL, especially non-syndromic HL (NSHL), genetic diagnosis and genetic counseling have a major impact on early management of the affected individuals and their families. Herein, we report the GJB2 gene variants and their frequencies in NSHL cohort at a tertiary health center between 2002-2021 to contribute for the future genetic counseling of Turkish NSHL patients.Materials and Methods: Two exons of the GJB2 gene were amplified in 402 NSHL patients by two separate PCR reactions and sequenced using the Sanger technique.GJB2 gene variant frequency and spectrum İstanbul Tıp Fakültesi Dergisi • J Ist Faculty Med

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Section: Discussionmentioning

confidence: 50%

Gjb2-Related Non-Syndromic Hearing Loss Variants’ Spectrum and Their Frequency in Turkish Population

Güleç¹,

Aslanger²,

Karaman³

et al. 2022

jmed

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“…The frequency of p.R84W was reported by 10.3% and 2.4% in Southeastern Anatolia and Turkey, respectively 30,31 . Haplotype analysis showed that the mutation was due to a ‘Founder Effect’ since approximately 1250 years ago.…”

Section: Transmembrane Inner Earmentioning

confidence: 99%

How Transmembrane Inner Ear (TMIE) plays role in the auditory system: A mystery to us

Farhadi

Razmara

Balali

et al. 2021

J Cellular Molecular Medi

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Different cellular mechanisms contribute to the hearing sense, so it is obvious that any disruption in such processes leads to hearing impairment that greatly influences the global economy and quality of life of the patients and their relatives. In the past two decades, transmembrane inner ear (TMIE) protein has received a great deal of research interest because its impairments cause hereditary deafness in humans. This evolutionarily conserved membrane protein contributes to a fundamental complex that plays role in the maintenance and function of the sensory hair cells. Although the critical roles of the TMIE in mechanoelectrical transduction or hearing procedures have been discussed, there are little to no review papers summarizing the roles of the TMIE in the auditory system. In order to fill this gap, herein, we discuss the important roles of this protein in the auditory system including its role in mechanotransduction, olivocochlear synapse, morphology and different signalling pathways; we also review the genotype‐phenotype correlation that can per se show the possible roles of this protein in the auditory system.

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“…The improved diagnostic, prognostic, and therapeutic options are the potential translational outcomes of systematic elucidation of NSHL genes [4]. Involvement of gene-encoded proteins in hearing function is expected because the inner ear and hearing mechanism has a very complicated structure [11]. Thus, the present study has focused on exploring some other target genes and most deleterious mutations in genes other than GJB2, which might lead to genetic NSHL through systematic review since the last decade (2009-2020) and in silico analyses like functional network analysis and variant study.…”

Section: Introductionmentioning

confidence: 99%

Comprehensive functional network analysis and screening of deleterious pathogenic variants in non-syndromic hearing loss causative genes

2021

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Hearing loss is a significant public health problem and causes the most frequent congenital disability in developed societies. The genetic analysis of non-syndromic hearing loss (NSHL) may be considered as a complement to the existent plethora of diagnostic modalities available. This study focuses on exploring more target genes with respective non-synonymous single nucleotide polymorphisms (nsSNPs) involved in the development of NSHL. The functional network analysis and variant study have successfully been carried out from the gene pool retrieved from reported research articles of the last decade. The analyses have been done through STRING. According to predicted biological processes, various variant analysis tools have successfully classified the NSHL causative genes and identified the deleterious nsSNPs, respectively. Among the predicted pathogenic nsSNPs with rsIDs rs80356586 (I515T), rs80356596 (L1011P), rs80356606 (P1987R) in OTOF have been reported in NSHL earlier. The rs121909642 (P722S), rs267606805 (P722H) in FGFR1, rs121918506 (E565A) and rs121918509 (A628T, A629T) in FGFR2 have not reported in NSHL yet, which should be clinically experimented in NSHL. This also which indicates this variant's novelty as its association in NSHL. The findings and the analysed data have delivered some vibrant genetic pathogenesis of NSHL. This data might be used in the diagnostic and prognostic purposes in non-syndromic congenitally deaf children.

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Research of genetic bases of hereditary non-syndromic hearing loss

Cited by 6 publications

References 43 publications

Gjb2-Related Non-Syndromic Hearing Loss Variants’ Spectrum and Their Frequency in Turkish Population

Gjb2-Related Non-Syndromic Hearing Loss Variants’ Spectrum and Their Frequency in Turkish Population

How Transmembrane Inner Ear (TMIE) plays role in the auditory system: A mystery to us

Comprehensive functional network analysis and screening of deleterious pathogenic variants in non-syndromic hearing loss causative genes

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