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Int. J. Mol. Sci. 2018, 19(1), 209; doi:10.3390/ijms19010209

Functional Testing of SLC26A4 Variants—Clinical and Molecular Analysis of a Cohort with Enlarged Vestibular Aqueduct from Austria

1
Department of Otorhinolaryngology, Head and Neck Surgery, Paracelsus Medical University, Müllner Hauptstraße 48, A-5020 Salzburg, Austria
2
Institute of Pharmacology and Toxicology, Paracelsus Medical University, Strubergasse 21, A-5020 Salzburg, Austria
3
PharmGenetix Gmbh, Sonystrasse 20, A-5081 Niederalm Anif, Austria
4
Department of Otorhinolaryngology, Head & Neck Surgery and Oncology, University Medical Center Hamburg-Eppendorf, Martinistraße 52, D-20251 Hamburg, Germany
5
Center for Health and Bioresources, Austrian Institute of Technology, Muthgasse 11, A-1190 Vienna, Austria
*
Authors to whom correspondence should be addressed.
Received: 24 November 2017 / Revised: 20 December 2017 / Accepted: 28 December 2017 / Published: 10 January 2018
(This article belongs to the Special Issue Ion Transporters and Channels in Physiology and Pathophysiology)
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Abstract

The prevalence and spectrum of sequence alterations in the SLC26A4 gene, which codes for the anion exchanger pendrin, are population-specific and account for at least 50% of cases of non-syndromic hearing loss associated with an enlarged vestibular aqueduct. A cohort of nineteen patients from Austria with hearing loss and a radiological alteration of the vestibular aqueduct underwent Sanger sequencing of SLC26A4 and GJB2, coding for connexin 26. The pathogenicity of sequence alterations detected was assessed by determining ion transport and molecular features of the corresponding SLC26A4 protein variants. In this group, four uncharacterized sequence alterations within the SLC26A4 coding region were found. Three of these lead to protein variants with abnormal functional and molecular features, while one should be considered with no pathogenic potential. Pathogenic SLC26A4 sequence alterations were only found in 12% of patients. SLC26A4 sequence alterations commonly found in other Caucasian populations were not detected. This survey represents the first study on the prevalence and spectrum of SLC26A4 sequence alterations in an Austrian cohort and further suggests that genetic testing should always be integrated with functional characterization and determination of the molecular features of protein variants in order to unequivocally identify or exclude a causal link between genotype and phenotype. View Full-Text
Keywords: SLC26A4; non-syndromic hearing loss; enlarged vestibular aqueduct SLC26A4; non-syndromic hearing loss; enlarged vestibular aqueduct
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Roesch, S.; Bernardinelli, E.; Nofziger, C.; Tóth, M.; Patsch, W.; Rasp, G.; Paulmichl, M.; Dossena, S. Functional Testing of SLC26A4 Variants—Clinical and Molecular Analysis of a Cohort with Enlarged Vestibular Aqueduct from Austria. Int. J. Mol. Sci. 2018, 19, 209.

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