Identification of Novel LOXHD1 Variants in Chinese Patients with Non-Syndromic Hearing Loss

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.

✦ Clinical Takeaway ✦

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.

✦ Why It Matters ✦

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.

✦ Key Points ✦

01Novel LOXHD1 gene variants identified in Chinese patients with non-syndromic (isolated) hereditary hearing loss.

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Identification of Novel LOXHD1 Variants in Chinese Patients with Non-Syndromic Hearing Loss

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