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Diagnostic Yield and Genetic Variation in 85 Swedish Patients with Mild to Profound Hearing Loss Analyzed by Whole Genome Sequencing

Elander, Johanna LU orcid ; Ullmark, Tove LU ; Löwgren, Karolina LU ; Stenfeldt, Karin LU orcid ; Falkenius-Schmidt, Karolina LU ; Löfgren, Maria ; Castiglione, Alessandro LU orcid ; Busi, Micol ; Jonson, Tord LU and Ivarsson, Sofie LU , et al. (2025) In Journal of otolaryngology - head & neck surgery = Le Journal d'oto-rhino-laryngologie et de chirurgie cervico-faciale 54. p.19160216251345471-19160216251345471
Abstract

ImportanceThe genetic variation in patients with sensorineural hearing loss (SNHL) in the Nordic countries has not been previously reported.ObjectivesThe aim was to describe the genetic variation in a Swedish population and identify factors in favor of a high diagnostic yield.DesignThis was a prospective cohort study. Children with bilateral SNHL and adults with bilateral SNHL and clinically suspected genetic SNHL underwent genetic testing. A gene panel with ~200 genes was applied on whole genome sequencing (WGS) data. Variants were classified according to American College of Medical Genetics and Genomics criteria. Personal health data were extracted from medical records.Setting and ParticipantsEighty-five patients (aged 0-73 years)... (More)

ImportanceThe genetic variation in patients with sensorineural hearing loss (SNHL) in the Nordic countries has not been previously reported.ObjectivesThe aim was to describe the genetic variation in a Swedish population and identify factors in favor of a high diagnostic yield.DesignThis was a prospective cohort study. Children with bilateral SNHL and adults with bilateral SNHL and clinically suspected genetic SNHL underwent genetic testing. A gene panel with ~200 genes was applied on whole genome sequencing (WGS) data. Variants were classified according to American College of Medical Genetics and Genomics criteria. Personal health data were extracted from medical records.Setting and ParticipantsEighty-five patients (aged 0-73 years) from Lund and Örebro University Hospitals, 2 tertiary referral centers for audiology in Sweden, with mild to profound SNHL.ResultsIn almost half (45%, n = 38) of the cases, a genetic cause was identified across 24 different genes. Eleven cases had syndromic hearing loss. A majority (n = 57) had prelingual onset (<2 years) of SNHL and most of them had moderate-to-profound hearing loss (n = 52). Prelingual onset was associated with higher yield than postlingual onset (OR 6.3, 95% CI 2.1-19.0). In patients with moderate-profound prelingual SNHL, the diagnostic yield was 60% (n = 31/52).ConclusionThis is the first reported cohort of hearing loss patients undergoing genetic testing with WGS from a Nordic country. Early onset of hearing loss favored a higher diagnostic yield than postlingual, and a genetic cause was found in a majority of cases in patients with prelingual, moderate-to-profound SNHL.

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Contribution to journal
publication status
published
subject
keywords
diagnostic yield, genetic hearing loss, pathological variants, prelingual SNHL, whole genome sequencing
in
Journal of otolaryngology - head & neck surgery = Le Journal d'oto-rhino-laryngologie et de chirurgie cervico-faciale
volume
54
pages
19160216251345471 - 19160216251345471
publisher
SAGE Publications
external identifiers
  • pmid:40685639
  • scopus:105012052296
ISSN
1916-0208
DOI
10.1177/19160216251345471
language
English
LU publication?
yes
id
98813138-df6a-4d00-9a4d-01b38aa690df
date added to LUP
2025-12-16 14:08:01
date last changed
2025-12-16 14:09:15
@article{98813138-df6a-4d00-9a4d-01b38aa690df,
  abstract     = {{<p>ImportanceThe genetic variation in patients with sensorineural hearing loss (SNHL) in the Nordic countries has not been previously reported.ObjectivesThe aim was to describe the genetic variation in a Swedish population and identify factors in favor of a high diagnostic yield.DesignThis was a prospective cohort study. Children with bilateral SNHL and adults with bilateral SNHL and clinically suspected genetic SNHL underwent genetic testing. A gene panel with ~200 genes was applied on whole genome sequencing (WGS) data. Variants were classified according to American College of Medical Genetics and Genomics criteria. Personal health data were extracted from medical records.Setting and ParticipantsEighty-five patients (aged 0-73 years) from Lund and Örebro University Hospitals, 2 tertiary referral centers for audiology in Sweden, with mild to profound SNHL.ResultsIn almost half (45%, n = 38) of the cases, a genetic cause was identified across 24 different genes. Eleven cases had syndromic hearing loss. A majority (n = 57) had prelingual onset (&lt;2 years) of SNHL and most of them had moderate-to-profound hearing loss (n = 52). Prelingual onset was associated with higher yield than postlingual onset (OR 6.3, 95% CI 2.1-19.0). In patients with moderate-profound prelingual SNHL, the diagnostic yield was 60% (n = 31/52).ConclusionThis is the first reported cohort of hearing loss patients undergoing genetic testing with WGS from a Nordic country. Early onset of hearing loss favored a higher diagnostic yield than postlingual, and a genetic cause was found in a majority of cases in patients with prelingual, moderate-to-profound SNHL.</p>}},
  author       = {{Elander, Johanna and Ullmark, Tove and Löwgren, Karolina and Stenfeldt, Karin and Falkenius-Schmidt, Karolina and Löfgren, Maria and Castiglione, Alessandro and Busi, Micol and Jonson, Tord and Ivarsson, Sofie and Ehrencrona, Hans and Ehinger, Johannes K. and Värendh, Maria}},
  issn         = {{1916-0208}},
  keywords     = {{diagnostic yield; genetic hearing loss; pathological variants; prelingual SNHL; whole genome sequencing}},
  language     = {{eng}},
  month        = {{01}},
  pages        = {{19160216251345471--19160216251345471}},
  publisher    = {{SAGE Publications}},
  series       = {{Journal of otolaryngology - head & neck surgery = Le Journal d'oto-rhino-laryngologie et de chirurgie cervico-faciale}},
  title        = {{Diagnostic Yield and Genetic Variation in 85 Swedish Patients with Mild to Profound Hearing Loss Analyzed by Whole Genome Sequencing}},
  url          = {{http://dx.doi.org/10.1177/19160216251345471}},
  doi          = {{10.1177/19160216251345471}},
  volume       = {{54}},
  year         = {{2025}},
}