title: An effective screening strategy for deafness in combination with a next-generation sequencing platform: a consecutive analysis.
abstract: The diagnosis of the genetic etiology of deafness contributes to the clinical management of patients. We performed the following four genetic tests in three stages for 52 consecutive deafness subjects in one facility. We used the Invader assay for 46 mutations in 13 genes and Sanger sequencing for the GJB2 gene or SLC26A4 gene in the first-stage test, the TaqMan genotyping assay in the second-stage test and targeted exon sequencing using massively parallel DNA sequencing in the third-stage test. Overall, we identified the genetic cause in 40% (21/52) of patients. The diagnostic rates of autosomal dominant, autosomal recessive and sporadic cases were 50%, 60% and 34%, respectively. When the sporadic cases with congenital and severe hearing loss were selected, the diagnostic rate rose to 48%. The combination approach using these genetic tests appears to be useful as a diagnostic tool for deafness patients. We recommended that genetic testing for the screening of common mutations in deafness genes using the Invader assay or TaqMan genotyping assay be performed as the initial evaluation. For the remaining undiagnosed cases, targeted exon sequencing using massively parallel DNA sequencing is clinically and economically beneficial.
authors.affiliation: Department of Otorhinolaryngology, Head and Neck Surgery, School of Medicine, Yokohama City University, Yokohama, Japan.|Department of Otorhinolaryngology, School of Medicine, Shinshu University, Matsumoto, Japan.
authors.forename: Naoko
authors.initials: N
authors.lastname: Sakuma
authors.affiliation: Department of Otorhinolaryngology, School of Medicine, Shinshu University, Matsumoto, Japan.
authors.forename: Hideaki
authors.initials: H
authors.lastname: Moteki
authors.affiliation: Department of Otorhinolaryngology, Head and Neck Surgery, School of Medicine, Yokohama City University, Yokohama, Japan.
authors.forename: Masahiro
authors.initials: M
authors.lastname: Takahashi
authors.affiliation: Department of Otorhinolaryngology, School of Medicine, Shinshu University, Matsumoto, Japan.
authors.forename: Shin-ya
authors.initials: SY
authors.lastname: Nishio
authors.affiliation: Department of Otorhinolaryngology, Head and Neck Surgery, School of Medicine, Yokohama City University, Yokohama, Japan.
authors.forename: Yasuhiro
authors.initials: Y
authors.lastname: Arai
authors.affiliation: Department of Otorhinolaryngology, Yokohama City University Medical Center, Yokohama, Japan.
authors.forename: Yukiko
authors.initials: Y
authors.lastname: Yamashita
authors.affiliation: Department of Otorhinolaryngology, Head and Neck Surgery, School of Medicine, Yokohama City University, Yokohama, Japan.
authors.forename: Nobuhiko
authors.initials: N
authors.lastname: Oridate
authors.affiliation: Department of Otorhinolaryngology, School of Medicine, Shinshu University, Matsumoto, Japan.
authors.forename: Shin-ichi
authors.initials: S
authors.lastname: Usami
mesh_terms: D004247:DNA / Q000235:genetics*; D003638:Deafness / Q000235:genetics*; D059014:High-Throughput Nucleotide Sequencing / Q000379:methods*; D006801:Humans; D007564:Japan
chemical_list: D004247:DNA