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Stereocilin gene variants associated with episodic vertigo: expansion of the DFNB16 phenotype
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology, Medicinsk genetik och genomik.
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology, Medicinsk genetik och genomik. Uppsala University, Science for Life Laboratory, SciLifeLab.ORCID iD: 0000-0003-4185-7409
Karolinska Hosp, Dept Hearing & Balance Disorders, Solna, Sweden.
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology. Uppsala University, Science for Life Laboratory, SciLifeLab.ORCID iD: 0000-0001-6085-6749
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2018 (English)In: European Journal of Human Genetics, ISSN 1018-4813, E-ISSN 1476-5438, Vol. 26, no 12, p. 1871-1874Article in journal (Refereed) Published
Abstract [en]

Vestibular disorders comprise a heterogeneous group of diseases with transient or permanent loss of vestibular function. Vestibulopathy is in most cases associated with migraine, Meniere disease, hereditary ataxias, or sensorineural hearing loss. We identified two brothers and their first cousin affected by hearing loss and episodic vertigo. The brothers were homozygous STRC nonsense variant [c.4027 C> T, p.(Q1343*)], whereas their first cousin was compound heterozygous for the STRC nonsense variant and a 97 kb deletion spanning the entire STRC gene. Clinical investigations confirmed pathological vestibular responses in addition to a characteristic DFNB16 hearing loss. The STRC gene encodes Stereocilin in the cochlea and in the vestibular organ where it ensheathes the kinocilium of the otolithic membranes. Stereocilin is associated with the gel overlaying the vestibular kinocilia, suggesting a role for the protein in sensing balance and spatial orientation. Our findings support such a function for Stereocilin in the vestibular organ and expand the phenotype associated with DFNB16.

Place, publisher, year, edition, pages
NATURE PUBLISHING GROUP , 2018. Vol. 26, no 12, p. 1871-1874
National Category
Otorhinolaryngology
Identifiers
URN: urn:nbn:se:uu:diva-371126DOI: 10.1038/s41431-018-0256-6ISI: 000450614800019PubMedID: 30250054OAI: oai:DiVA.org:uu-371126DiVA, id: diva2:1272882
Funder
Swedish Research Council, 2015-02424The Swedish Brain FoundationScience for Life Laboratory - a national resource center for high-throughput molecular bioscienceAvailable from: 2018-12-20 Created: 2018-12-20 Last updated: 2018-12-20Bibliographically approved

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Frykholm, CarinaKlar, JoakimAmeur, AdamDahl, Niklas

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Medicinsk genetik och genomikScience for Life Laboratory, SciLifeLabDepartment of Immunology, Genetics and Pathology
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European Journal of Human Genetics
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