Hereditary etiology of non-syndromic sensorineural hearing loss in the Republic of North Ossetia–Alania

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Hereditary etiology of non-syndromic sensorineural hearing loss in the Republic of North Ossetia–Alania https://t.co/huWa82NLkM @thePeerJ
Global Health

Main article text

 

Introduction

Materials and Methods

Characteristic of NSNHL patients

Characteristics of the cohort of healthy individuals

DNA isolation

Molecular genetic testing

Search for point mutations in the GJB2, GJB6, and GJB3 genes

Search for large genome rearrangements associated with NSNHL

Whole-exome sequencing

Analysis of variants in the MYO15A gene

Statistical analysis

Results

Discussion

Spectrum of GJB2 variants associated with hereditary hearing loss in RNO–Alania

GJB2-negative hearing loss in RNO–Alania

Large genome rearrangements causing X-linked deafness

Search for disability-causing variants by NGS analysis

Conclusions

Supplemental Information

Pathogenicity predictions for the novel single nucleotive variants identified in the study.

Each cell indicates the values of the pathogenicity predictions of the novel single nucleotive variants in an annotated vcf format.

DOI: 10.7717/peerj.14514/supp-1

Anonymized raw data.

DOI: 10.7717/peerj.14514/supp-2

Additional Information and Declarations

Competing Interests

The authors declare that they have no competing interests.

Author Contributions

Nika Petrova conceived and designed the experiments, performed the experiments, analyzed the data, prepared figures and/or tables, authored or reviewed drafts of the article, and approved the final draft.

Inna Tebieva analyzed the data, authored or reviewed drafts of the article, resources, and approved the final draft.

Vitaly Kadyshev performed the experiments, authored or reviewed drafts of the article, and approved the final draft.

Zalina Getoeva analyzed the data, authored or reviewed drafts of the article, resources, and approved the final draft.

Natalia Balinova conceived and designed the experiments, performed the experiments, analyzed the data, authored or reviewed drafts of the article, and approved the final draft.

Andrey Marakhonov performed the experiments, analyzed the data, prepared figures and/or tables, authored or reviewed drafts of the article, and approved the final draft.

Tatyana Vasilyeva performed the experiments, analyzed the data, authored or reviewed drafts of the article, and approved the final draft.

Evgeny Ginter conceived and designed the experiments, authored or reviewed drafts of the article, and approved the final draft.

Sergey Kutsev conceived and designed the experiments, authored or reviewed drafts of the article, funding acquisition, and approved the final draft.

Rena Zinchenko conceived and designed the experiments, analyzed the data, authored or reviewed drafts of the article, and approved the final draft.

Human Ethics

The following information was supplied relating to ethical approvals (i.e., approving body and any reference numbers):

This study was approved by the Ethics Committee of Research Centre for Medical Genetics (protocol No. 5 dated December 20, 2010).

DNA Deposition

The following information was supplied regarding the deposition of DNA sequences:

The mutations revealed in the study are available at ClinVar: VCV000017004, VCV000017006, VCV000017029, VCV000188821, VCV000044766, VCV000044737.

The novel variants are available at ClinVar: SUB11631471, SUB11760721.

https://www.ncbi.nlm.nih.gov/clinvar/variation/17004/?redir=vcv

https://www.ncbi.nlm.nih.gov/clinvar/variation/17006/?redir=vcv

https://www.ncbi.nlm.nih.gov/clinvar/variation/17029/?redir=vcv

https://www.ncbi.nlm.nih.gov/clinvar/variation/188821/?redir=vcv

https://www.ncbi.nlm.nih.gov/clinvar/variation/44766/?redir=vcv

https://www.ncbi.nlm.nih.gov/clinvar/variation/44737/?redir=vcv

Data Availability

The following information was supplied regarding data availability:

The data is available in the Supplemental Table.

Funding

The research was supported by the Ministry of Science and Higher Education of the Russian Federation (the Federal Scientific-technical program for genetic technologies development for 2019–2027, agreement No 075-15-2021-1061, RF 193021X0029). There was no additional external funding received for this study. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.

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