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ORIGINAL ARTICLE
POSTLINGUAL SENSORINEURAL HEARING LOSS
DUE TO A VERY RARE COCH PATHOGENIC
VARIANT
| 1 | Department of Genetics, Institute of Physiology and Pathology of Hearing, Warsaw,
Poland |
| 2 | Postgraduate School of Molecular Medicine, Medical University of Warsaw, Warsaw,
Poland |
| 3 | Department of Otoneurology, Institute of Physiology and Pathology of Hearing, Warsaw,
Poland |
| 4 | Oto-Rhino-Laryngology Surgery Clinic, Institute of Physiology and Pathology of
Hearing, Warsaw, Poland |
A - Research concept and design; B - Collection and/or assembly of data; C - Data analysis and interpretation; D - Writing the article; E - Critical revision of the article; F - Final approval of article;
CORRESPONDING AUTHOR
Monika Oldak
Monika Ołdak, MD, PhD, Department of Genetics, World Hearing Center, Institute of Physiology and Pathology of Hearing, Mokra 17, Kajetany, 05-830 Nadarzyn, Tel.: +48-22-356-03-66; Fax: +48-22-356-03-67; e-mail: m.oldak@ifps.org.pl
Monika Ołdak, MD, PhD, Department of Genetics, World Hearing Center, Institute of Physiology and Pathology of Hearing, Mokra 17, Kajetany, 05-830 Nadarzyn, Tel.: +48-22-356-03-66; Fax: +48-22-356-03-67; e-mail: m.oldak@ifps.org.pl
Publication date: 2018-03-31
J Hear Sci 2018;8(1):31–37
ABSTRACT
Background:
The COCH gene encoding cochlin is highly expressed in the inner ear but the exact physiological function of the protein still remains unknown. Pathogenic variants located in COCH cause autosomal dominant hearing loss with possible vestibular involvement.
Material and Methods:
A five-generation Polish family with autosomal dominant hearing loss and tinnitus was recruited for the study. Audiological and vestibular assessments were conducted and clinical exome sequencing was performed in the index patient. Next, co-segregation of the detected variant with hearing loss in the family was confirmed using Sanger sequencing
Results:
All affected individuals presented postlingual, progressive hearing loss mainly affecting high frequencies. No vestibular dysfunction was detected. In this study, we have identified a very rare COCH p.Ile374Thr pathogenic variant that segregated with the disease.
Conclusions:
Our study provides an independent confirmation of the pathogenic role of COCH c.1115T>C in hearing loss. In addition to hearing loss, individuals with COCH pathogenic variants may also suffer from tinnitus and vertigo.
The COCH gene encoding cochlin is highly expressed in the inner ear but the exact physiological function of the protein still remains unknown. Pathogenic variants located in COCH cause autosomal dominant hearing loss with possible vestibular involvement.
Material and Methods:
A five-generation Polish family with autosomal dominant hearing loss and tinnitus was recruited for the study. Audiological and vestibular assessments were conducted and clinical exome sequencing was performed in the index patient. Next, co-segregation of the detected variant with hearing loss in the family was confirmed using Sanger sequencing
Results:
All affected individuals presented postlingual, progressive hearing loss mainly affecting high frequencies. No vestibular dysfunction was detected. In this study, we have identified a very rare COCH p.Ile374Thr pathogenic variant that segregated with the disease.
Conclusions:
Our study provides an independent confirmation of the pathogenic role of COCH c.1115T>C in hearing loss. In addition to hearing loss, individuals with COCH pathogenic variants may also suffer from tinnitus and vertigo.
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