Genotype-guided Recall Delineates the Adult Auditory Phenotype in GJB2 p.V37I Homozygotes: High-frequency Vulnerability and Environmental Modulation

GJB2 p.V37I is common in East Asian populations and is an established contributor to mild-to-moderate hearing loss, yet the adult auditory phenotype and its modification by environmental exposures remain incompletely defined.

✦ Clinical Takeaway ✦

Adults with GJB2 p.V37I homozygosity should be counselled about high-frequency hearing vulnerability and monitored with high-frequency audiometry; environmental noise protection is advisable given evidence of environmental modulation.

✦ Why It Matters ✦

Defining the adult auditory phenotype for this common East Asian GJB2 variant enables more precise genetic counselling, targeted surveillance protocols, and personalised hearing conservation advice.

✦ Key Points ✦

01Genotype-guided recall design enabled systematic phenotyping of GJB2 p.V37I homozygotes in an adult East Asian cohort.
02High-frequency hearing thresholds were the primary site of vulnerability in affected individuals.
03Environmental factors (e.g., noise exposure) modulated the degree of hearing loss, suggesting gene–environment interaction.
04Findings support early and ongoing high-frequency audiometric monitoring in this genotype group.
05Results have direct implications for genetic counselling of families carrying the p.V37I variant.

✦ Claims & Evidence ✦

ClaimEvidenceSupport

GJB2 p.V37I homozygotes show selective vulnerability at high audiometric frequencies.

studysupported

Environmental factors modulate the degree of hearing loss in GJB2 p.V37I homozygotes.

studypartially supported

✦ Research metadata ✦

PMID: 42153671
DOI: 10.1097/MAO.0000000000004956.
Journal: Otology & Neurotology
Publication type: research_article
Evidence level: 2b
Population: Adults homozygous for GJB2 p.V37I variant, predominantly East Asian
Intervention: Genotype-guided recall and adult auditory phenotyping

Primary outcomes

Audiometric phenotype characterisation (high-frequency hearing thresholds); Identification of environmental modulators of hearing loss

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