title: Association between mutations in the gap junction β4 gene and nonsyndromic hearing loss: genotype-phenotype correlation patterns.
abstract: Numerous studies have confirmed that gap junctions, composed of connexin (Cx) protein, are essential for auditory function. However, few studies have investigated the correlation between variants in the gap junction β4 (GJB4) gene and phenotype in patients with nonsyndromic hearing loss. Our previous study identified 11 patients with GJB4 gene variants in 253 unrelated patients with nonsyndromic hearing loss. In the present study, the phenotype-genotype correlation was examined in the 11 deaf patients with the different variants of GJB4. Analytical results revealed that the majority of probands had congenital hearing loss, which was bilateral, stable and without associated dermatological manifestations or morphological changes of the inner ear. An audiometric profile, including the observed consistency with severe-profound and flat shape dominance, may enable screening for variants of GJB4. On the basis of the above results, it was hypothesized that GJB4 may be a genetic risk factor for the development of nonsyndromic hearing loss and the data from the present study can be used to direct the clinical evaluation and effectively manage the care of families of children with GJB4.
authors.affiliation: Institute of Medicine, Chung Shan Medical University, Taichung 402, Taiwan, R.O.C.
authors.forename: Tung-Cheng
authors.initials: TC
authors.lastname: Li
authors.affiliation: Department of Otolaryngology, Chang Gung Memorial Hospital, Chiayi 613, Taiwan, R.O.C.
authors.forename: Wen-Hung
authors.initials: WH
authors.lastname: Wang
authors.affiliation: Department of Biomedical Sciences, Chung Shan Medical University Hospital, Taichung 402, Taiwan, R.O.C.
authors.forename: Chuan
authors.initials: C
authors.lastname: Li
authors.affiliation: Department of Biomedical Sciences, Chung Shan Medical University Hospital, Taichung 402, Taiwan, R.O.C.
authors.forename: Jiann-Jou
authors.initials: JJ
authors.lastname: Yang
mesh_terms: D000293:Adolescent; D002648:Child; D017630:Connexins / Q000737:chemistry / Q000235:genetics*; D003638:Deafness / Q000175:diagnosis / Q000235:genetics; D007758:Ear, Inner / Q000000981:diagnostic imaging; D056726:Genetic Association Studies; D005838:Genotype; D006320:Hearing Tests; D006801:Humans; D009154:Mutation; D010641:Phenotype; D012720:Severity of Illness Index; D013701:Temporal Bone / Q000000981:diagnostic imaging; D014057:Tomography, X-Ray Computed
chemical_list: D017630:Connexins; C076275:connexin 30.3