ArticleInternational journal of clinical and experimental medicine2015
Prevalence of p.V37I variant of GJB2 among Chinese infants with mild or moderate hearing loss.
Article in International journal of clinical and experimental medicine, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers, 1 of them a synthesis that pooled it.
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Who cites it
7 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Association between the p.V37I variant of GJB2 and hearing loss: a pedigree and meta-analysis.Oncotarget · 2017Pooled it
- Disparities in deafness gene mutations between Han and Li ethnic newborns in Hainan, China: insights from a combined screening program.BMC medical genomics · 2026Article
- Targeted fetal NGS panel reveals genetic conditions in sonographically normal fetuses: Insights from a large cohort study.PloS one · 2025Article
- Structural basis for pathogenic variants of GJB2 and hearing levels of patients with hearing loss.BMC research notes · 2024Article
- Analysis of GJB2 gene mutations spectrum and the characteristics of individuals with c.109G>A in Western Guangdong.Molecular genetics & genomic medicine · 2023Article
- Multi-Center in-Depth Screening of Neonatal Deafness Genes: Zhejiang, China.Frontiers in genetics · 2021Article
- Impact of Hearing Aids on Language Outcomes in Preschool Children With Mild Bilateral Hearing Loss.Trends in hearingArticle
Corrections and comments
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Authors and funding
7 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
GJB2 accounts for more than 80% of recessive forms of hereditary hearing loss (HL); however, the correlation between the p.V37I variant of GJB2 and hearing phenotype is controversial. This study aimed to investigate the clinical and epidemiological characteristics of the p.V37I variant in sensorineural hearing loss in Chinese infants (0-3 months). Hearing and gene tests were conducted in 300 infants (aged 0-3 months) with sensorineural hearing impairment and 484 normal infants (aged 0-3 months). Among the 300 hearing-impaired infants, 16 (5.33%) exhibited homozygous p.V37I variation and 7 (2.34%) showed a compound-heterozygous p.V37I variation, whereas no homozygous p.V37I (0%) or compound-heterozygous p.V37I (0%) condition was found among the 484 normal infants. The hearing impairment ranged from mild to profound in all patients exhibiting the homozygous p.V37I or the compound-heterozygous p.V37I condition, although most patients (61.54%) exhibit mild or moderate HL. Our results indicated that the p.V37I variation of GJB2 mutation is mainly associated with mild or moderate hearing impairment. Therefore, otolaryngologists should also screen the p.V37I variant of GJB2 in patients with mild or moderate HL.
Indexed as
Identifiers
26885124PMC4723969What OpenQuestion holds
Registered trials
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