title: Application of deafness diagnostic screening panel based on deafness mutation/gene database using invader assay.
abstract: Despite progress in identification of deafness genes, clinical application has lagged due to the genetic heterogeneity of deafness. We designed and tested a comprehensive and simple diagnostic strategy to simultaneously detect deafness gene mutations based on a mutation/gene database followed by Invader assay screening of 41 known mutations of nine known deafness genes. Three hundred thirty-eight Japanese patients with congenital or childhood-onset (up to age 10) bilateral sensorineural hearing loss participated in this study. A total of 100 (29.6%) subjects had at least one mutation in GJB2, SLC26A4, and/or the mitochondrial 12S rRNA, indicating that these are the three major causative genes in Japanese deafness patients. The present study demonstrated that the Invader assay has excellent sensitivity and accuracy, and its application to deafness mutation screening will greatly improve medical management and facilitate extensive genetic counseling for hearing impairment.
authors.affiliation: Division of Advanced Technology and Development, BML, Inc., Kawagoe-shi, Saitama 350-1101, Japan.
authors.forename: Satoko
authors.initials: S
authors.lastname: Abe
authors.forename: Toshikazu
authors.initials: T
authors.lastname: Yamaguchi
authors.forename: Shin-Ichi
authors.initials: S
authors.lastname: Usami
mesh_terms: D002648:Child; D002675:Child, Preschool; D000072259:Connexin 26; D017630:Connexins; D004252:DNA Mutational Analysis / Q000379:methods*; D030541:Databases, Genetic; D003638:Deafness / Q000151:congenital / Q000175:diagnosis* / Q000235:genetics; D005820:Genetic Testing / Q000379:methods*; D006319:Hearing Loss, Sensorineural / Q000151:congenital / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D009154:Mutation
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26