Hearing impairment caused by mutations in two different genes responsible for nonsyndromic and syndromic hearing loss within a single family

Niepokój, Katarzyna; Rygiel, Agnieszka M.; Jurczak, Piotr; Kujko, Aleksandra A; Śniegórska, Dominika; Sawicka, Justyna; Grabarczyk, Alicja; Bal, Jerzy; Wertheim-Tysarowska, Katarzyna

doi:10.1007/s13353-017-0416-3

Human Genetics • Original Paper
Published: 18 November 2017

Hearing impairment caused by mutations in two different genes responsible for nonsyndromic and syndromic hearing loss within a single family

Katarzyna Niepokój ORCID: orcid.org/0000-0002-8205-375X¹,
Agnieszka M. Rygiel¹,
Piotr Jurczak²,
Aleksandra A Kujko¹,
Dominika Śniegórska¹,
Justyna Sawicka¹,
Alicja Grabarczyk¹,
Jerzy Bal¹ &
Katarzyna Wertheim-Tysarowska¹

Journal of Applied Genetics volume 59, pages 67–72 (2018)Cite this article

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Abstract

Usher syndrome is rare genetic disorder impairing two human senses, hearing and vision, with the characteristic late onset of vision loss. This syndrome is divided into three types. In all cases, the vision loss is postlingual, while loss of hearing is usually prelingual. The vestibular functions may also be disturbed in Usher type 1 and sometimes in type 3. Vestibular areflexia is helpful in making a proper diagnosis of the syndrome, but, often, the syndrome is misdiagnosed as a nonsyndromic hearing loss. Here, we present a Polish family with hearing loss, which was clinically classified as nonsyndromic. After excluding mutations in the DFNB1 locus, we implemented the next-generation sequencing method and revealed that hearing loss was syndromic and mutations in the USH2A gene indicate Usher syndrome. This research highlights the importance of molecular analysis in establishing a clinical diagnosis of congenital hearing loss.

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Acknowledgements

The study was supported by grant no. 2014/13/N/NZ5/03671 funded by the National Science Center, Królewska 57 Street, 30-081 Kraków, Poland, and grant no. 510-18-07 funded by the Mother and Child Institute, Kasprzaka 17a Street, 01-211 Warsaw, Poland.

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Affiliations

Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a Street, 01-211, Warsaw, Poland
Katarzyna Niepokój, Agnieszka M. Rygiel, Aleksandra A Kujko, Dominika Śniegórska, Justyna Sawicka, Alicja Grabarczyk, Jerzy Bal & Katarzyna Wertheim-Tysarowska
Center of Diagnosis, Treatment and Rehabilitation of Hearing, Voice and Speech Disorders, John Paul II Podkarpacie Province Hospital, Korczyńska Street, 38-400, Krosno, Poland
Piotr Jurczak

Authors

Katarzyna Niepokój
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Agnieszka M. Rygiel
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Piotr Jurczak
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Aleksandra A Kujko
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Dominika Śniegórska
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Justyna Sawicka
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Alicja Grabarczyk
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Jerzy Bal
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Katarzyna Wertheim-Tysarowska
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Contributions

Katarzyna Niepokój: conception, first draft, revising and final approval, responsibility for all aspects of the work and the final manuscript version, data analysis, corresponding author.

Agnieszka M. Rygiel: manuscript revision, text structuralizing, final approval, responsibility for the final version of the manuscript.

Piotr Jurczak: manuscript revision, final approval, responsibility for the final version of the manuscript, especially good clinical description of the patients.

Aleksandra Kujko: laboratory test performance, responsibility for revision and final version approval.

Dominika Śniegórska: laboratory test performance, DNA isolation, responsibility for revision and the final version of the manuscript.

Justyna Sawicka: laboratory test performance, responsibility for revision and the final version of the manuscript, figure preparation.

Alicja Grabarczyk: laboratory test performance, responsibility for revision and the final version approval, especially references to manuscript table.

Jerzy Bal: critical revision for important intellectual content, final approval and responsibility for the manuscript content.

Katarzyna Wertheim-Tysarowska: manuscript revision on all writing stages of manuscript, final revision and approval.

Every author listed in the manuscript has seen and approved the submission of this version of the manuscript and takes full responsibility for the manuscript.

Corresponding author

Correspondence to Katarzyna Niepokój.

Ethics declarations

Financial sources

1. Grant funded by the National Science Center, Poland (no. 2014/13/N/NZ5/03671 [KN]), title: Molecular basis of isolated hearing loss in a group of Polish patients- using of Next Generation Sequencing to identify genes and mutations responsible for the hereditary form of the disease.

The funds were spent on research and on a fee for the grant manager and one assistant. Fee payment was not related to any commitments resulting in a potential or real conflict of interest related to the published manuscript.

2. Grant funded by the Mother and Child Institute (no. 510-18-07[KN]), title: Molecular basis of Usher syndrome- a comprehensive analysis of 10 genes in a group of Polish patients using Next Generation Sequencing (NGS).

The funds were spent on research only and were not related to any commitments resulting in a potential or real conflict of interest related to the published manuscript.

None of the funding institutions participated or influenced the collection and analysis of data.

We don’t have any patents, whether planned, pending or issued, broadly relevant to the work.

We have no conflicts of interest to disclose.

There are no other relationships/conditions/circumstances that present a potential conflict of interest connected with financial ties, academic commitments, personal relationships, political or religious beliefs and institutional affiliations.

Ethical approval

The study was approved by the Ethics Committee of the Mother and Child Institute and was carried out in accordance with The Code of Ethics of the World Medical Association (Declaration of Helsinki).

All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

Informed consent was obtained from all individual participants included in the study.

Additional information

Communicated by: Michal Witt

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Niepokój, K., Rygiel, A.M., Jurczak, P. et al. Hearing impairment caused by mutations in two different genes responsible for nonsyndromic and syndromic hearing loss within a single family. J Appl Genetics 59, 67–72 (2018). https://doi.org/10.1007/s13353-017-0416-3

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Received: 12 September 2017
Revised: 26 October 2017
Accepted: 03 November 2017
Published: 18 November 2017
Issue Date: February 2018
DOI: https://doi.org/10.1007/s13353-017-0416-3

Keywords

NGS, next-generation sequencing
NSHL, nonsyndromic hearing loss
SHL, syndromic hearing loss
Usher syndrome