Clinical and genetic characterisation of childhood-onset sensorineural hearing loss reveal associated phenotypes and enrichment of pathogenic founder mutations in the Finnish population

SNHL is genetically and clinically heterogeneous. Pathogenic variants in <i>GJB2</i> were the most common. Several population-enriched variants were identified as causing SNHL in the northern Finnish population. Associated medical phenotypes are common and should be taken into account in patients' follow-up and treatment.

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Publication Details

Journal
International Journal of Audiology
Published
2024-10-18
DOI
https://doi.org/10.1080/14992027.2024.2402840
Primary Topic
Hearing, Cochlea, Tinnitus, Genetics
Type
article
Field-Weighted Citation Impact
0.00

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article

Clinical and genetic characterisation of childhood-onset sensorineural hearing loss reveal associated phenotypes and enrichment of pathogenic founder mutations in the Finnish population

Minna Kraatari‐Tiri, Sanna Häkli, Pia Pohjola, Elisa Rahikkala et al.
International Journal of Audiology
Hearing, Cochlea, Tinnitus, Genetics
article

Clinical and genetic characterisation of childhood-onset sensorineural hearing loss reveal associated phenotypes and enrichment of pathogenic founder mutations in the Finnish population

Minna Kraatari‐Tiri, Sanna Häkli, Pia Pohjola, Elisa Rahikkala, Tyrni Pykälainen
article en

Abstract

SNHL is genetically and clinically heterogeneous. Pathogenic variants in <i>GJB2</i> were the most common. Several population-enriched variants were identified as causing SNHL in the northern Finnish population. Associated medical phenotypes are common and should be taken into account in patients' follow-up and treatment.

International Journal of AudiologyVol. 64(9)
Oulu University Hospital (FI), Turku University Hospital (FI), University of Oulu (FI)
Academy of Finland
Openalex Percentile: Top 83%
Hearing, Cochlea, Tinnitus, Genetics
DOISourceOpenAlex
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