Molecular analysis of TMC1 gene in the Korean patients with nonsyndromic hearing loss

Kim, Hyo-Kyeong; Kim, Yee-Hyuk; Sagong, Borum; Kwon, Tae-Jun; Oh, Se‐Kyung; Lee, Hye-Jin; Lee, Kyu-Yup; Lee, Sangheon; Kim, Un-Kyung

doi:10.1007/s13258-010-0132-4

Cited by 2 publications

(4 citation statements)

References 15 publications

(20 reference statements)

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“…Kalay et al (2005) investigated four novel TMC1 (DFNB7/DFNB11) mutations in Turkish patients with congenital autosomal recessive NSHL (ARNSHL), and they indicated that TMC1 mutations account for at least 6% (4/65) of ARNSHL cases in GJB2 -negative Turkish families from the northeast and east of Turkey; however, in our study, mutation in exons 7 and 13 of TMC1 gene was not observed ( 14 ). In another study in Sudan, it was shown that TMC1 mutations contribute to deafness; this confirmed and extended previous reports on the role of TMC1 in recessive non-syndromic deafness ( 20 , 21 ). Meanwhile, in the present study on the Iranian population, no significant relation between exon 7 and 13 mutations of the TMC1 gene were observed.…”

Section: Discussionsupporting

confidence: 86%

“…The strength of this study was the number of samples, as 890 blood samples were provided; however, due to a lack of financial resources, we chose two exons of this gene. Via the molecular analysis of the TMC1 gene in Korean patients, one study showed that this gene was not the cause of NSHL in the Korean population ( 20 ). In our study, as in the research in Korea, a relation between the TMC1 gene and NSHL in the Iranian population was not observed.…”

Section: Discussionmentioning

confidence: 99%

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Mutation Screening of Exons 7 and 13 of the TMC1 Gene in Autosomal Recessive Non-syndromic Hearing Loss (ARNSHL) in Iran

Moradipour

Ghasemi-Dehkordi

Heibati

et al. 2016

Iran Red Crescent Med J

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Background:Non-syndromic hearing loss (NSHL) is the most common birth defect and occurs in approximately 1/1,000 newborns. NSHL is a heterogeneous trait and can arise due to both genetic and environmental factors. Mutations of the transmembrane channel-like 1 (TMC1) gene cause non-syndromic deafness in humans and mice.Objectives:The aim of the present study was to investigate the association of TMC1 gene mutations of the locus DFNB7/11 in exons 7 and 13 in a cohort of 100 patients with hearing loss in Iran using polymerase chain reaction–single-stranded conformation polymorphism (PCR-SSCP), heteroduplex analysis (HA), and DNA sequencing.Patients and Methods:In this experimental study, the blood samples of 100 NSHL patients were collected from 10 provinces in Iran. These patients had a mean age of 16.5 ± 2.01 years and 74.15% of their parents had consanguinity. DNA was extracted from specimens and mutations of exons 7 and 13 of the TMC1 gene were investigated using PCR-SSCP. All samples were checked via HA reaction and suspected specimens with shift bands were subjected to DNA sequencing for investigation of any gene variation.Results:In this study, no mutation was found in the two exons of TMC1 gene. It was concluded from these results that mutations of the TMC1 gene’s special exons 7 and 13 have a low contribution in patients and are not great of clinical importance in these Iranian provinces.Conclusions:More studies are needed to investigate the relationship between other parts of this gene with hearing loss in different populations through the country. More research could clarify the role of this gene and its relation with deafness and provide essential information for the prevention and management of auditory disorders caused by genetic factors in the Iranian population.

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Section: Discussionsupporting

confidence: 86%

Section: Discussionmentioning

confidence: 99%

Mutation Screening of Exons 7 and 13 of the TMC1 Gene in Autosomal Recessive Non-syndromic Hearing Loss (ARNSHL) in Iran

Moradipour

Ghasemi-Dehkordi

Heibati

et al. 2016

Iran Red Crescent Med J

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“…The implementation of the U-TOP™ HL Genotyping Kit Ver2 is not necessarily limited to ANSD. Indeed, the development of this new kit was based on the recent identification of several prevalent variants exerting a potential hotspot/founder effect or manifest specific auditory phenotypes in the Korean hearing-impaired population [ 15 , 16 , 17 , 18 , 19 , 20 ]. This new kit was designed to detect as many recurring and important deafness-causing variants as possible in conjunction with the previous version, U-TOP™ HL Genotyping Kit Ver1.…”

Section: Discussionmentioning

confidence: 99%

“…This issue implicates some major variants of other deafness genes as well. Indeed, several prevalent variants that exert a potential hotspot/founder effect or manifest specific auditory phenotypes have been recently identified in the Korean population with varying degrees of SNHL [ 16 , 17 , 18 , 19 , 20 ].…”

Section: Introductionmentioning

confidence: 99%

Flexible Real-Time Polymerase Chain Reaction-Based Platforms for Detecting Deafness Mutations in Koreans: A Proposed Guideline for the Etiologic Diagnosis of Auditory Neuropathy Spectrum Disorder

Lee

Han

et al. 2020

Diagnostics

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Routine application of next-generation sequencing in clinical settings is often limited by time- and cost-prohibitive complex filtering steps. Despite the previously introduced genotyping kit that allows screening of the 11 major recurring variants of sensorineural hearing loss (SNHL) genes in the Korean population, the demand for phenotype- and variant-specific screening kits still remains. Herein, we developed a new real-time PCR-based kit (U-TOP™ HL Genotyping Kit Ver2), comprising six variants from two auditory neuropathy spectrum disorder (ANSD) genes (OTOF and ATP1A3) and five variants from three SNHL genes (MPZL2, COCH, and TMC1), with a distinct auditory phenotype, making this the first genotyping kit dedicated to ANSD. The concordance rate with Sanger sequencing, sensitivity, and specificity of this genotyping kit were all 100%, suggesting reliability. The kit not only allows timely and cost-effective identification of recurring OTOF variants, but it also allows timely detection of cochlear nerve deficiency for those without OTOF variants. Herein, we provide a clinical guideline for an efficient, rapid, and cost-effective etiologic diagnosis of prelingual ANSD. Our study provides a good example of continuing to update new key genetic variants, which will continuously be revealed through NGS, as targets for the newly developed genotyping kit.

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Molecular analysis of TMC1 gene in the Korean patients with nonsyndromic hearing loss

Cited by 2 publications

References 15 publications

Mutation Screening of Exons 7 and 13 of the TMC1 Gene in Autosomal Recessive Non-syndromic Hearing Loss (ARNSHL) in Iran

Mutation Screening of Exons 7 and 13 of the TMC1 Gene in Autosomal Recessive Non-syndromic Hearing Loss (ARNSHL) in Iran

Flexible Real-Time Polymerase Chain Reaction-Based Platforms for Detecting Deafness Mutations in Koreans: A Proposed Guideline for the Etiologic Diagnosis of Auditory Neuropathy Spectrum Disorder

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