OBJECTIVES: Although LOXHD1 mutations have been increasingly implicated in late-onset hereditary hearing loss, the genetic spectrum and underlying molecular mechanisms in the Chinese population remain inadequately characterized. This study aims to delineate the genetic landscape of LOXHD1 in Chinese families with non-syndromic hearing loss and to determine the pathogenic significance of the identified variants.
No immediate change to clinical practice, but these novel LOXHD1 variants expand the genetic panel targets relevant for late-onset non-syndromic hearing loss in East Asian populations.
Expanding the known LOXHD1 variant spectrum in Chinese patients improves the diagnostic yield of genetic hearing loss panels for East Asian populations and informs counseling for families.
- 01Novel LOXHD1 gene variants identified in Chinese patients with non-syndromic (isolated) hereditary hearing loss.
- 02Hearing loss in these cases is late-onset, meaning it develops later in life rather than at birth.
- 03Study expands the known genetic spectrum of LOXHD1-related hearing loss.
- 04Molecular mechanisms underlying these variants are investigated, adding biological insight.
- 05Findings are relevant to genetic screening panels used in East Asian populations.
Novel LOXHD1 variants are responsible for non-syndromic late-onset hereditary hearing loss in a Chinese patient cohort.
studysupportedThe identified LOXHD1 variants expand the known genetic spectrum of hereditary hearing loss.
studysupported- PMID
- 42131115
- DOI
- 10.26599/JOTO.2026.9540055.
- Journal
- Journal of Otology
- Publication type
- research_article
- Evidence level
- 4
- Population
- Chinese patients with non-syndromic late-onset hereditary hearing loss
- Intervention
- Genomic sequencing to identify LOXHD1 variants
Primary outcomes
Identification of novel LOXHD1 pathogenic variants; Characterization of molecular mechanisms of LOXHD1-related hearing loss