biostudies-literatureUnknown17(5-6)Choi SYMutations in the gap junction β2 (GJB2) gene, encoding the connexin26 (CX26) protein, are the most common cause of non-syndromic hearing loss (HL) in many populations. In the East Asian population, two variants, p.V27I (c.79G>A) and p.E114G (c.341G>A), are considered benign polymorphisms since these variants have been identified in both HL patients and normal hearing controls. However, some studies have postulated that homozygotes carrying both p.V27I and p.E114G variants could cause HL. To elucidate possible roles of these variants, we used in vitro approaches to directly assess the pathogenicity of four haplotypes generated by the two polymorphisms: VE (wild type), I*E (p.V27I variant only), VG* (p.E114G variant only), I*G* (both variants). In biochemical coupling assays, the gap junctioMolecular medicine (Cambridge, Mass.)550-6https://www.ebi.ac.uk/biostudies/studies/S-EPMC3105137biostudies-literatureFunctional evaluation of GJB2 variants in nonsyndromic hearing loss.PMC3105137Kim HKChoi SYKim UKChang QKim HJPark HJJeon CJLin XLee KYBok JfalseFunctional evaluation of GJB2 variants in nonsyndromic hearing loss.Mutations in the gap junction β2 (GJB2) gene, encoding the connexin26 (CX26) protein, are the most common cause of non-syndromic hearing loss (HL) in many populations. In the East Asian population, two variants, p.V27I (c.79G>A) and p.E114G (c.341G>A), are considered benign polymorphisms since these variants have been identified in both HL patients and normal hearing controls. However, some studies have postulated that homozygotes carrying both p.V27I and p.E114G variants could cause HL. To elucidate possible roles of these variants, we used in vitro approaches to directly assess the pathogenicity of four haplotypes generated by the two polymorphisms: VE (wild type), I*E (p.V27I variant only), VG* (p.E114G variant only), I*G* (both variants). In biochemical coupling assays, the gap junctio2011-01-01T00:00:00Z2011 May-Jun2026-05-04T23:05:40.51Z2025-07-03T03:06:49.899ZS-EPMC31051372129821310.2119/molmed.2010.00183