title: Prevalence of p.V37I variant of GJB2 in mild or moderate hearing loss in a pediatric population and the interpretation of its pathogenicity.
abstract: A p.V37I variant of GJB2 has been reported from subjects with moderate or slight hearing loss especially in East Asian populations. This study aimed to estimate the prevalence of the p.V37I variant among such subjects and prove, epidemiologically, its pathogenic potential to cause mild hearing loss. A total of 380 subjects from 201 families with hearing loss were enrolled. From them, 103 families were selected who had autosomal recessive inheritance or sporadic occurrence of hearing loss and who were younger than 15 years old. GJB2 sequencing was carried out for the probands of all 103 families. The prevalence of the p.V37I variant was compared between the subtle, mild or moderate hearing loss (group I) and the severe or profound hearing loss (group II) groups. Where possible, a targeted next generation sequencing of 82 deafness genes was performed from the p.V37I carrier to exclude the existence of other pathogenic genes. Five (4.8%) of 103 probands were found to carry p.V37I. The carrier frequency of p.V37I among group I (18.2%) was significantly higher than that of group II (1.2%) or the reported Korean normal hearing control group (1.0%). Detection of the p.V37I variant of GJB2 in 18.2% of Koreans with mild hearing loss strongly suggests its contribution to the pathogenesis of milder hearing loss, which might justify sequencing of GJB2 from these subjects in the Korean population.
authors: Department of Otorhinolaryngology-Head and Neck Surgery, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.
authors: So Young
authors: SY
authors: Kim
authors: Gibeom
authors: G
authors: Park
authors: Kyu-Hee
authors: KH
authors: Han
authors: Ahreum
authors: A
authors: Kim
authors: Ja-Won
authors: JW
authors: Koo
authors: Sun O
authors: SO
authors: Chang
authors: Seung Ha
authors: SH
authors: Oh
authors: Woong-Yang
authors: WY
authors: Park
authors: Byung Yoon
authors: BY
authors: Choi
mesh_terms: D000293:Adolescent; D001483:Base Sequence; D002648:Child; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D014644:Genetic Variation; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis / Q000209:etiology / Q000235:genetics*; D006801:Humans; D008297:Male; D010375:Pedigree
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26
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