• Search Research Projects
  • Search Researchers
  • How to Use
  1. Back to previous page

Development of high throughput sequencing analysis based system for personalized medicine of deafness

Research Project

Project/Area Number 15H02565
Research Category

Grant-in-Aid for Scientific Research (A)

Allocation TypeSingle-year Grants
Section一般
Research Field Otorhinolaryngology
Research InstitutionShinshu University

Principal Investigator

Usami Shin-ichi  信州大学, 学術研究院医学系, 教授 (10184996)

Co-Investigator(Kenkyū-buntansha) 茂木 英明  信州大学, 医学部, 助教 (60422698)
西尾 信哉  信州大学, 学術研究院医学系, 助教 (70467166)
Project Period (FY) 2015-04-01 – 2018-03-31
Project Status Completed (Fiscal Year 2017)
Budget Amount *help
¥41,730,000 (Direct Cost: ¥32,100,000、Indirect Cost: ¥9,630,000)
Fiscal Year 2017: ¥11,960,000 (Direct Cost: ¥9,200,000、Indirect Cost: ¥2,760,000)
Fiscal Year 2016: ¥11,960,000 (Direct Cost: ¥9,200,000、Indirect Cost: ¥2,760,000)
Fiscal Year 2015: ¥17,810,000 (Direct Cost: ¥13,700,000、Indirect Cost: ¥4,110,000)
Keywords難聴 / 遺伝子 / 次世代シークエンサー / ゲノム / 遺伝性難聴 / 遺伝学 / 医療・福祉 / 内耳
Outline of Final Research Achievements

Hearing loss is one of the most common congenital or early onset sensory disorders, appearing in one out of 700 to 1000 newborns, with 50% to 70% of cases attributable to genetic causes. Inherited hearing loss demonstrates great heterogeneity and approximately one hundred genes are estimated to be involved. In this study, we performed massively parallel DNA sequencing (MPS) analysis for the gene mutations of the previously reported deafness causing genes among a larger series of 500 unrelated Japanese hereditary hearing loss patients. As a result, we obtained the mutation spectrum and frequency of Japanese hearing loss patients and we also clarified clinical feature of each gene mutation case. In addition, we also identified the relatively rare causative gene mutations and its detailed clinical characteristics (Iwasa et al., 2016, Kitano et al., 2017, Kobayashi et al., 2018).

Report

(4 results)
  • 2017 Annual Research Report   Final Research Report ( PDF )
  • 2016 Annual Research Report
  • 2015 Annual Research Report
  • Research Products

    (95 results)

All 2018 2017 2016 2015

All Journal Article (29 results) (of which Int'l Joint Research: 6 results,  Peer Reviewed: 27 results,  Open Access: 25 results,  Acknowledgement Compliant: 22 results) Presentation (66 results) (of which Int'l Joint Research: 19 results,  Invited: 2 results)

  • [Journal Article] Simple and efficient germline copy number variant visualization method for the Ion AmpliSeq custom panel.2018

    • Author(s)
      Nishio SY, Moteki H, Usami SI.
    • Journal Title

      Mol Genet Genomic Med.

      Volume: 1 Issue: 4 Pages: 678-686

    • DOI

      10.1002/mgg3.399

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] WFS1 mutation screening in a large series of Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis2018

    • Author(s)
      Kobayashi M, Miyagawa M, Nishio SY, Moteki H, Fujikawa T, Ohyama K, Sakaguchi H, Miyanohara I, Sugaya A, Naito Y, Morita SY, Kanda Y, Takahashi M, Ishikawa K, Nagano Y, Tono T, Oshikawa C, Kihara C, Takahashi H, Noguchi Y, Usami SI.
    • Journal Title

      PLoS One.

      Volume: 13 Issue: 3 Pages: e0193359-e0193359

    • DOI

      10.1371/journal.pone.0193359

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] A rational approach to identifying newborns with hearing loss caused by congenital cytomegalovirus infection by dried blood spot screening.2018

    • Author(s)
      Moteki H, Isaka Y, Inaba Y, Motobayashi M, Nishio SY, Ohira S, Yano T, Iwasaki S, Shiozawa T, Koike K, Usami SI.
    • Journal Title

      Acta Otolaryngol.

      Volume: 1 Issue: 8 Pages: 708-712

    • DOI

      10.1080/00016489.2018.1441545

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed / Int'l Joint Research
  • [Journal Article] POU4F3 mutation screening in Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis identified novel variants associated with autosomal dominant hearing loss.2017

    • Author(s)
      Kitano T, Miyagawa M, Nishio SY, Moteki H, Oda K, Ohyama K, Miyazaki H, Hidaka H, Nakamura KI, Murata T, Matsuoka R, Ohta Y, Nishiyama N, Kumakawa K, Furutate S, Iwasaki S, Yamada T, Ohta Y, Uehara N, Noguchi Y, Usami SI.
    • Journal Title

      PLoS One.

      Volume: 12 Issue: 5 Pages: e0177636-e0177636

    • DOI

      10.1371/journal.pone.0177636

    • NAID

      120006373770

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Laser-capture micro dissection combined with next-generation sequencing analysis of cell type-specific deafness gene expression in the mouse cochlea.2017

    • Author(s)
      Nishio SY, Takumi Y, Usami SI.
    • Journal Title

      Hear Res.

      Volume: 348 Pages: 87-97

    • DOI

      10.1016/j.heares.2017.02.017

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] The Clinical Next-Generation Sequencing Database: A Tool for the Unified Management of Clinical Information and Genetic Variants to Accelerate Variant Pathogenicity Classification.2017

    • Author(s)
      Nishio SY, Usami SI.
    • Journal Title

      Hum Mutat.

      Volume: 38 Issue: 3 Pages: 252-259

    • DOI

      10.1002/humu.23160

    • Related Report
      2016 Annual Research Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Journal Article] Frequency of Usher syndrome type 1 in deaf children by massively parallel DNA sequencing.2016

    • Author(s)
      Yoshimura H, Miyagawa M, Kumakawa K, Nishio S, Usami S.
    • Journal Title

      J Hum Genet

      Volume: 61 Issue: 5 Pages: 419-422

    • DOI

      10.1038/jhg.2015.168

    • NAID

      40020825234

    • Related Report
      2016 Annual Research Report 2015 Annual Research Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Journal Article] Detection and Confirmation of Deafness-Causing Copy Number Variations in the STRC Gene by Massively Parallel Sequencing and Comparative Genomic Hybridization.2016

    • Author(s)
      Moteki H, Azaiez H, Sloan-Heggen CM, Booth K, Nishio S, Wakui K, Yamaguchi T, Kolbe DL, Iwasa Y, Shearer AE, Fukushima Y, Smith RJ, Usami S.
    • Journal Title

      Ann Otol Rhinol Laryngol

      Volume: 125 Issue: 11 Pages: 918-923

    • DOI

      10.1177/0003489416661345

    • Related Report
      2016 Annual Research Report
    • Peer Reviewed / Int'l Joint Research / Acknowledgement Compliant
  • [Journal Article] Social Health Insurance-Based Simultaneous Screening for 154 Mutations in 19 Deafness Genes Efficiently Identified Causative Mutations in Japanese Hearing Loss Patients.2016

    • Author(s)
      Mori K, Moteki H, Miyagawa M, Nishio SY, Usami S.
    • Journal Title

      PLoS ONE

      Volume: 11 Issue: 9 Pages: e0162230-e0162230

    • DOI

      10.1371/journal.pone.0162230

    • Related Report
      2016 Annual Research Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Journal Article] Constitutive activation of DIA1 (DIAPH1) via C-terminal truncation causes human sensorineural hearing loss.2016

    • Author(s)
      Ueyama T, Ninoyu Y, Nishio S, Miyoshi T, Torii H, Nishimura K, Sugahara K, Sakata H, Thumkeo D, Sakaguchi H, Watanabe N, Usami S, Saito N, Kitajiri S.
    • Journal Title

      EMBO Molecular Medicine

      Volume: 8 Issue: 11 Pages: 1310-1324

    • DOI

      10.15252/emmm.201606609

    • NAID

      120005850206

    • Related Report
      2016 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research / Acknowledgement Compliant
  • [Journal Article] Comprehensive Genetic Analysis of Japanese Autosomal Dominant Sensorineural Hearing Loss Patients.2016

    • Author(s)
      Iwasa Y, Nishio S, Usami S.
    • Journal Title

      PLoS One

      Volume: 11 Issue: 12 Pages: e0166781-e0166781

    • DOI

      10.1371/journal.pone.0166781

    • Related Report
      2016 Annual Research Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Journal Article] 若年発症型両側性感音難聴2016

    • Author(s)
      西尾信哉、宇佐美真一
    • Journal Title

      耳喉頭頸

      Volume: 88 Pages: 224-232

    • NAID

      130008120546

    • Related Report
      2016 Annual Research Report
  • [Journal Article] 難聴の遺伝子診断とその臨床応用2016

    • Author(s)
      西尾信哉、宇佐美真一
    • Journal Title

      耳鼻臨床

      Volume: 109 Pages: 828-829

    • NAID

      130005170765

    • Related Report
      2016 Annual Research Report
  • [Journal Article] An effective screening strategy for deafness in combination with a next-generation sequencing platform: a consecutive analysis.2016

    • Author(s)
      Sakuma N, Moteki H, Takahashi M, Nishio SY, Arai Y, Yamashita Y, Oridate N, Usami S.
    • Journal Title

      J Hum Genet.

      Volume: 61 Issue: 3 Pages: 253-261

    • DOI

      10.1038/jhg.2015.143

    • NAID

      40020766326

    • Related Report
      2015 Annual Research Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Journal Article] A Comprehensive Study on the Etiology of Patients Receiving Cochlear Implantation With Special Emphasis on Genetic Epidemiology.2016

    • Author(s)
      Miyagawa M, Nishio SY, Usami S.
    • Journal Title

      Otol Neurotol.

      Volume: 37 Issue: 2 Pages: e126-e134

    • DOI

      10.1097/mao.0000000000000936

    • Related Report
      2015 Annual Research Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Journal Article] Comprehensive genetic testing with ethnic-specific filtering by allele frequency in a Japanese hearing-loss population.2015

    • Author(s)
      Moteki H, Azaiez H, Booth KT, Shearer AE, Sloan CM, Kolbe DL, Nishio S, Hattori M, Usami S, Smith RJ.
    • Journal Title

      Clin Genet.

      Volume: e-pub Issue: 4 Pages: 466-472

    • DOI

      10.1111/cge.12677

    • Related Report
      2015 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research / Acknowledgement Compliant
  • [Journal Article] Massively parallel DNA sequencing successfully identified seven families with deafness-associated MYO6 mutations: the mutational spectrum and clinical characteristics.2015

    • Author(s)
      Miyagawa M, Nishio SY, Kumakawa K, Usami S.
    • Journal Title

      Ann Otol Rhinol Laryngol.

      Volume: 124 Issue: 1_suppl Pages: 148S-157S

    • DOI

      10.1177/0003489415575055

    • Related Report
      2015 Annual Research Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Journal Article] Novel mutation in GRXCR1 at DFNB25 lead to progressive hearing loss and dizziness.2015

    • Author(s)
      Mori K, Miyanohara I, Moteki H, Nishio SY, Kurono Y, Usami S.
    • Journal Title

      Ann Otol Rhinol Laryngol.

      Volume: 124 Issue: 1_suppl Pages: 129S-134S

    • DOI

      10.1177/0003489415575061

    • Related Report
      2015 Annual Research Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Journal Article] Mutations in LOXHD1 gene cause various types and severities of hearing loss.2015

    • Author(s)
      Mori K, Moteki H, Kobayashi Y, Azaiez H, Booth KT, Nishio SY, Sato H, Smith RJ, Usami S.
    • Journal Title

      Ann Otol Rhinol Laryngol.

      Volume: 124 Issue: 1_suppl Pages: 135S-141S

    • DOI

      10.1177/0003489415574067

    • Related Report
      2015 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research / Acknowledgement Compliant
  • [Journal Article] Mutational spectrum and clinical features of patients with ACTG1 mutations identified by massively parallel DNA sequencing.2015

    • Author(s)
      Miyagawa M, Nishio SY, Ichinose A, Iwasaki S, Murata T, Kitajiri S, Usami S.
    • Journal Title

      Ann Otol Rhinol Laryngol.

      Volume: 124 Issue: 1_suppl Pages: 158S-168S

    • DOI

      10.1177/0003489415575058

    • Related Report
      2015 Annual Research Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Journal Article] Novel PTPRQ mutations identified in three congenital hearing loss patients with various types of hearing loss.2015

    • Author(s)
      Sakuma N, Moteki H, Azaiez H, Booth KT, Takahashi M, Arai Y, Shearer AE, Sloan CM, Nishio SY, Kolbe DL, Iwasaki S, Oridate N, Smith RJ, Usami S.
    • Journal Title

      Ann Otol Rhinol Laryngol.

      Volume: 124 Issue: 1_suppl Pages: 184S-192S

    • DOI

      10.1177/0003489415575041

    • Related Report
      2015 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research / Acknowledgement Compliant
  • [Journal Article] Deafness gene variations in a 1120 nonsyndromic hearing loss cohort: molecular epidemiology and deafness mutation spectrum of patients in Japan.2015

    • Author(s)
      Nishio SY, Usami S.
    • Journal Title

      Ann Otol Rhinol Laryngol.

      Volume: 124 Issue: 1_suppl Pages: 49S-60S

    • DOI

      10.1177/0003489415575059

    • Related Report
      2015 Annual Research Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Journal Article] Novel mutations in LRTOMT associated with moderate progressive hearing loss in autosomal recessive inheritance.2015

    • Author(s)
      Ichinose A, Moteki H, Hattori M, Nishio SY, Usami S.
    • Journal Title

      Ann Otol Rhinol Laryngol.

      Volume: 124 Issue: 1_suppl Pages: 142S-147S

    • DOI

      10.1177/0003489415575043

    • Related Report
      2015 Annual Research Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Journal Article] Non-ocular Stickler syndrome with a novel mutation in COL11A2 diagnosed by massively parallel sequencing in Japanese hearing loss patients.2015

    • Author(s)
      Iwasa Y, Moteki H, Hattori M, Sato R, Nishio SY, Takumi Y, Usami S.
    • Journal Title

      Ann Otol Rhinol Laryngol.

      Volume: 124 Issue: 1_suppl Pages: 111S-117S

    • DOI

      10.1177/0003489415575044

    • Related Report
      2015 Annual Research Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Journal Article] Germinal mosaicism in a family with BO syndrome.2015

    • Author(s)
      Miyagawa M, Nishio SY, Hattori M, Takumi Y, Usami S.
    • Journal Title

      Ann Otol Rhinol Laryngol.

      Volume: 124 Issue: 1_suppl Pages: 118S-122S

    • DOI

      10.1177/0003489415575062

    • Related Report
      2015 Annual Research Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Journal Article] Detailed hearing and vestibular profiles in the patients with COCH mutations.2015

    • Author(s)
      Tsukada K, Ichinose A, Miyagawa M, Mori K, Hattori M, Nishio SY, Naito Y, Kitajiri S, Usami S.
    • Journal Title

      Ann Otol Rhinol Laryngol.

      Volume: 124 Issue: 1_suppl Pages: 100S-110S

    • DOI

      10.1177/0003489415573074

    • Related Report
      2015 Annual Research Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Journal Article] The patients associated with TMPRSS3 mutations are good candidates for electric acoustic stimulation.2015

    • Author(s)
      Miyagawa M, Nishio SY, Sakurai Y, Hattori M, Tsukada K, Moteki H, Kojima H, Usami S.
    • Journal Title

      Ann Otol Rhinol Laryngol.

      Volume: 124 Issue: 1_suppl Pages: 193S-204S

    • DOI

      10.1177/0003489415575056

    • Related Report
      2015 Annual Research Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Journal Article] Novel ABHD12 mutations in PHARC patients: the differential diagnosis of deaf-blindness.2015

    • Author(s)
      Yoshimura H, Hashimoto T, Murata T, Fukushima K, Sugaya A, Nishio SY, Usami S.
    • Journal Title

      Ann Otol Rhinol Laryngol.

      Volume: 124 Issue: 1_suppl Pages: 77S-83S

    • DOI

      10.1177/0003489415574513

    • Related Report
      2015 Annual Research Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Journal Article] Clinical application of a custom AmpliSeq library and ion torrent PGM sequencing to comprehensive mutation screening for deafness genes.2015

    • Author(s)
      Nishio SY, Hayashi Y, Watanabe M, Usami S.
    • Journal Title

      Genet Test Mol Biomarkers.

      Volume: 19 Issue: 4 Pages: 209-217

    • DOI

      10.1089/gtmb.2014.0252

    • Related Report
      2015 Annual Research Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Presentation] Regulation of the localization of molecules in hair cell stereocilia by TRIOBP.2018

    • Author(s)
      Kitajiri S, Usami S
    • Organizer
      Association for Research in Otolaryngology 2018
    • Related Report
      2017 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Social health insurance-based comprehensive genetic testing clarified the molecular epidemiology of deafness.2018

    • Author(s)
      Usami S
    • Organizer
      Association for Research in Otolaryngology 2018
    • Related Report
      2017 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Comprehensive analysis of alternative splicing variants identified from tonotopical differences in the mouse cochlea.2018

    • Author(s)
      Nishio S, Usami S
    • Organizer
      Association for Research in Otolaryngology 2018
    • Related Report
      2017 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Targeted next-generation sequencing analysis of the genotype-phenotype correlation of DFNA8/12 caused by TECTA mutation in 990 autosomal dominant hearing loss patients.2018

    • Author(s)
      Yasukawa R, Usami S
    • Organizer
      Association for Research in Otolaryngology 2018
    • Related Report
      2017 Annual Research Report
    • Int'l Joint Research
  • [Presentation] OTOF mutation analysis with massively parallel DNA sequencing in 2135 Japanese sensorineural hearing loss patients.2018

    • Author(s)
      Iwasa Y, Usami S
    • Organizer
      Association for Research in Otolaryngology 2018
    • Related Report
      2017 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Variation of the LOXHD1 Mutation and its phenotypic features.2018

    • Author(s)
      Maekawa K, Usami S
    • Organizer
      Association for Research in Otolaryngology 2018
    • Related Report
      2017 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Haplotype analysis of GJB2 mutations: founder effect or mutation hot-spot?2018

    • Author(s)
      Shinagawa J, Usami S
    • Organizer
      Association for Research in Otolaryngology 2018
    • Related Report
      2017 Annual Research Report
    • Int'l Joint Research
  • [Presentation] A duplication mutation in HOXA2 causes autosomal dominant nonsyndromic mixed hearing loss and middle ear anomaly.2018

    • Author(s)
      Noguchi Y, Usami S
    • Organizer
      Association for Research in Otolaryngology 2018
    • Related Report
      2017 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Copy number variation in the STRC gene are a common cause of moderate hearing loss in a Japanese population.2018

    • Author(s)
      Moteki H, Usami S
    • Organizer
      Association for Research in Otolaryngology 2018
    • Related Report
      2017 Annual Research Report
    • Int'l Joint Research
  • [Presentation] 耳鼻咽喉科領域の遺伝子診断2017

    • Author(s)
      宇佐美真一
    • Organizer
      第118回日本耳鼻咽喉科学会学術講演会
    • Related Report
      2017 Annual Research Report
  • [Presentation] WFS1遺伝子変異が同定された優性遺伝形式遺伝性難聴のⅠ家系2017

    • Author(s)
      石川浩太郎、西尾信哉、宇佐美真一
    • Organizer
      第118回日本耳鼻咽喉科学会学術講演会
    • Related Report
      2017 Annual Research Report
  • [Presentation] 外耳、中耳奇形例に対するHOXA2遺伝子解析2017

    • Author(s)
      野口佳裕、西尾信哉、和佐野浩一郎、宇佐美真一
    • Organizer
      第118回日本耳鼻咽喉科学会学術講演会
    • Related Report
      2017 Annual Research Report
  • [Presentation] 次世代シーケンサーにより見出されたPOU4F3遺伝子変異症例2017

    • Author(s)
      北野友裕、宮川麻衣子、西尾信哉、茂木英明、野口佳裕、宇佐美真一
    • Organizer
      第118回日本耳鼻咽喉科学会学術講演会
    • Related Report
      2017 Annual Research Report
  • [Presentation] Genetics of deafness.2017

    • Author(s)
      Usami SI
    • Organizer
      ENT WORLD CONGRESS (IFOS) 2017
    • Related Report
      2017 Annual Research Report
    • Int'l Joint Research
  • [Presentation] SLC26A4遺伝子変異症例における聴力;めまいの長期経過2017

    • Author(s)
      塚田景大、小林正史、宮川麻衣子、宇佐美真一
    • Organizer
      第79回 耳鼻咽喉科臨床学会
    • Related Report
      2017 Annual Research Report
  • [Presentation] 日本人難聴患者におけるPOU3F4遺伝子変異の検討2017

    • Author(s)
      杉山健二郎、茂木英明、宮川麻衣子、西尾信哉、宇佐美真一
    • Organizer
      第79回 耳鼻咽喉科臨床学会
    • Related Report
      2017 Annual Research Report
  • [Presentation] 次世代シーケンサーを用いた日本人難聴患者におけるEYA4遺伝子変異の検討2017

    • Author(s)
      品川潤、茂木英明、西尾信哉、宇佐美真一
    • Organizer
      第79回 耳鼻咽喉科臨床学会
    • Related Report
      2017 Annual Research Report
  • [Presentation] NGS-Based Genetic Testing for Deafness2017

    • Author(s)
      Nishio S, Usami S
    • Organizer
      AAO-HNSF2017 (ENT Annual Meeting)
    • Related Report
      2017 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Novel Mutations in EYA4 Lead to Progressive hearing Loss2017

    • Author(s)
      Shinagawa J, Moteki H, Nishio S, Usami S
    • Organizer
      AAO-HNSF2017 (ENT Annual Meeting)
    • Related Report
      2017 Annual Research Report
    • Int'l Joint Research
  • [Presentation] STRC遺伝子Copy Number Variation(CNV)による感音難聴の2症例2017

    • Author(s)
      横田陽、茂木英明、西尾信哉、宮崎浩充、日高浩史、大山健二、宇佐美真一
    • Organizer
      第62回 日本聴覚医学会総会
    • Related Report
      2017 Annual Research Report
  • [Presentation] COL11A2遺伝子変異によるStickler症候群3型の2症例2017

    • Author(s)
      岡晋一郎、岩佐陽一郎、西尾信哉、茂木英明、宇佐美真一
    • Organizer
      第62回 日本聴覚医学会総会
    • Related Report
      2017 Annual Research Report
  • [Presentation] USH2A遺伝子変異が同定された両中等度難聴3兄妹例2017

    • Author(s)
      大上麻由里、追川陽子、塚原桃子、清水福子、鈴木典子、大川智恵、大上研二、飯田正弘、西尾信哉、宇佐美真一
    • Organizer
      第62回 日本聴覚医学会総会
    • Related Report
      2017 Annual Research Report
  • [Presentation] 日本人難聴患者6004例におけるTECTA遺伝子変異ー難聴遺伝子データベースの解析から2017

    • Author(s)
      安川梨香、平松憲、茂木英明、西尾信哉、宇佐美真一
    • Organizer
      第62回 日本聴覚医学会総会
    • Related Report
      2017 Annual Research Report
  • [Presentation] 当科におけるGJB2遺伝子変異による難聴症例の検討2017

    • Author(s)
      石川浩太郎、西尾信哉、宇佐美真一
    • Organizer
      第62回 日本聴覚医学会総会
    • Related Report
      2017 Annual Research Report
  • [Presentation] GJB2遺伝子変異による常染色体優性遺伝形式を呈する掌 角化症を伴う先天性感音難聴の一家系2017

    • Author(s)
      荒井康裕、宇佐美真一、高橋優宏、佐久間直子、西尾信哉
    • Organizer
      第62回 日本聴覚医学会総会
    • Related Report
      2017 Annual Research Report
  • [Presentation] 遺伝性難聴DFNA1の原因遺伝子DIAPH1と、その変異による難聴発症メカニズムの解明2017

    • Author(s)
      北尻真一郎、二之湯弦、西尾信哉、三好拓志、鳥居紘子、西村幸司、菅原一真、坂田英明、たむけおでぃーん、坂口博史、渡邊直樹、宇佐美真一、齋藤尚亮、上山健彦
    • Organizer
      第62回 日本人類遺伝学会
    • Related Report
      2017 Annual Research Report
  • [Presentation] HOXA2重複変異は常染色体優性非症候群性混合性難聴と中耳奇形を引き起こす2017

    • Author(s)
      野口佳裕、西尾信哉、和佐野浩一郎、藤川太郎、木村彰方
    • Organizer
      第62回 日本人類遺伝学会
    • Related Report
      2017 Annual Research Report
  • [Presentation] 遺伝性難聴患者を対象とした臨床ゲノムデータベースの構築2017

    • Author(s)
      西尾信哉、宇佐美真一
    • Organizer
      第62回 日本人類遺伝学会
    • Related Report
      2017 Annual Research Report
  • [Presentation] 保険収載された難聴の遺伝学的検査の現状2017

    • Author(s)
      宇佐美真一、茂木英明、宮川麻衣子、西尾信哉
    • Organizer
      第62回 日本人類遺伝学会
    • Related Report
      2017 Annual Research Report
  • [Presentation] STRC遺伝子におけるコピー数変化による難聴2017

    • Author(s)
      茂木英明、横田陽、岡晋一郎、西尾信哉、、山口智美、涌井敬子、宇佐美真一
    • Organizer
      第62回 日本人類遺伝学会
    • Related Report
      2017 Annual Research Report
  • [Presentation] Mutation spectrum and genotype-phenotype correlation of hearingloss patients caused by SLC26A4 mutations in the Japanese: a large cohort study.2017

    • Author(s)
      Miyagawa M, Usami S
    • Organizer
      第62回 日本人類遺伝学会
    • Related Report
      2017 Annual Research Report
  • [Presentation] 遺伝性難聴患者を対象とした臨床ゲノムデータベースの構築2017

    • Author(s)
      西尾信哉、宇佐美真一
    • Organizer
      第27回 日本耳科学会
    • Related Report
      2017 Annual Research Report
  • [Presentation] Waardenburg症候群日本人患者の遺伝子変異と臨床症状について2017

    • Author(s)
      出浦美智恵、西尾信哉、宇佐美真一
    • Organizer
      第27回 日本耳科学会
    • Related Report
      2017 Annual Research Report
  • [Presentation] EYA4遺伝子変異による遺伝生感音難聴の1家系2017

    • Author(s)
      阿部聡子、三澤建、武田英彦、西尾信哉、宇佐美真一
    • Organizer
      第27回 日本耳科学会
    • Related Report
      2017 Annual Research Report
  • [Presentation] EYA4遺伝子変異特異的疾患ips細胞の樹立2017

    • Author(s)
      松崎佐栄子、藤岡正人、細谷誠、佐伯翼、阿部聡子、西尾信哉、松永達雄、宇佐美真一、小川郁
    • Organizer
      第27回 日本耳科学会
    • Related Report
      2017 Annual Research Report
  • [Presentation] 次世代シーケンサーを用いたAuditory neuropathy spectrum disorderに対する遺伝子解析2017

    • Author(s)
      岩佐陽一郎、西尾信哉、宇佐美真一
    • Organizer
      第27回 日本耳科学会
    • Related Report
      2017 Annual Research Report
  • [Presentation] 遺伝性難聴から見た蝸牛と前庭2017

    • Author(s)
      塚田景大、宇佐美真一
    • Organizer
      第76回日本めまい平衡医学会
    • Related Report
      2017 Annual Research Report
  • [Presentation] POU4F3遺伝子変異症例における平衡機能障害の検討2017

    • Author(s)
      北野友裕、塚田景大、小林正史、宇佐美真一
    • Organizer
      第76回日本めまい平衡医学会
    • Related Report
      2017 Annual Research Report
  • [Presentation] POU4F3遺伝子変異を認めた一例の前庭機能について2017

    • Author(s)
      白井杏湖、太田陽子、西山信宏、河口幸江、宇佐美真一、塚原清彰
    • Organizer
      第76回日本めまい平衡医学会
    • Related Report
      2017 Annual Research Report
  • [Presentation] Waardenburg症候群における平衡機能の検討2017

    • Author(s)
      渡邊築、塚田景大、小林正史、宇佐美真一
    • Organizer
      第76回日本めまい平衡医学会
    • Related Report
      2017 Annual Research Report
  • [Presentation] SLC26A4遺伝子変異症例における平衡障害の検討2016

    • Author(s)
      塚田景大、小林正史、森健太郎、宮川麻衣子、宇佐美真一
    • Organizer
      第75回日本めまい平衡医学会総会
    • Place of Presentation
      大阪国際会議場
    • Year and Date
      2016-10-27
    • Related Report
      2016 Annual Research Report
  • [Presentation] 難聴医療従事者に必要な遺伝子診断の知識2016

    • Author(s)
      宇佐美真一
    • Organizer
      第61回日本聴覚医学会総会
    • Place of Presentation
      盛岡グランドホテル
    • Year and Date
      2016-10-19
    • Related Report
      2016 Annual Research Report
  • [Presentation] 人工内耳埋め込み術を行ったCDH23複合へテロ接合体変異を有する同胞2例2016

    • Author(s)
      山口智也、岡野高之、山本典行、山崎博司、西尾信哉、宇佐美真一、山口忍、近藤香菜子、石田愛、大森孝一
    • Organizer
      第61回日本聴覚医学会総会
    • Place of Presentation
      盛岡グランドホテル
    • Year and Date
      2016-10-19
    • Related Report
      2016 Annual Research Report
  • [Presentation] 内耳研究に魅せられて:形態学から遺伝子研究まで2016

    • Author(s)
      宇佐美真一
    • Organizer
      第26回日本耳科学会
    • Place of Presentation
      ホテル国際21(長野市)
    • Year and Date
      2016-10-05
    • Related Report
      2016 Annual Research Report
  • [Presentation] HOXA2変異によるアブミ骨奇形を呈する常染色体優性遺伝性混合性難聴2016

    • Author(s)
      野口佳裕、 西尾信哉、宇佐美真一
    • Organizer
      第26回日本耳科学会
    • Place of Presentation
      ホテル国際21(長野市)
    • Year and Date
      2016-10-05
    • Related Report
      2016 Annual Research Report
  • [Presentation] 先天性難聴の遺伝学的検査ー次世代シーケンサーの臨床応用ー2016

    • Author(s)
      茂木英明、西尾信哉、宇佐美真一
    • Organizer
      第26回日本耳科学会
    • Place of Presentation
      ホテル国際21(長野市)
    • Year and Date
      2016-10-05
    • Related Report
      2016 Annual Research Report
  • [Presentation] 難聴に対する遺伝学的診断の検討2016

    • Author(s)
      佐久間直子、茂木英明、高橋優宏、荒井康裕、西尾信哉、折舘伸彦、宇佐美真一
    • Organizer
      第26回日本耳科学会
    • Place of Presentation
      ホテル国際21(長野市)
    • Year and Date
      2016-10-05
    • Related Report
      2016 Annual Research Report
  • [Presentation] 当科データベースにおける次世代シーケンサーを用いたOTOF遺伝子の変異解析2016

    • Author(s)
      岩佐陽一郎、西尾信哉、宇佐美真一
    • Organizer
      第26回日本耳科学会
    • Place of Presentation
      ホテル国際21(長野市)
    • Year and Date
      2016-10-05
    • Related Report
      2016 Annual Research Report
  • [Presentation] 全エキソーム解析で見出された新規難聴原因遺伝子と考えられるCDC14A遺伝子変異症例2016

    • Author(s)
      吉村豪兼、宇佐美真一
    • Organizer
      第26回日本耳科学会
    • Place of Presentation
      ホテル国際21(長野市)
    • Year and Date
      2016-10-05
    • Related Report
      2016 Annual Research Report
  • [Presentation] 次世代シーケンサーをベースにした19遺伝子154変異の難聴遺伝学的検査2016

    • Author(s)
      森健太郎、西尾信哉、宇佐美真一
    • Organizer
      第26回日本耳科学会
    • Place of Presentation
      ホテル国際21(長野市)
    • Year and Date
      2016-10-05
    • Related Report
      2016 Annual Research Report
  • [Presentation] 次世代シーケンサーにより見出されたPOU4F3遺伝子変異症例の臨床像2016

    • Author(s)
      北野友裕、宮川麻衣子、西尾信哉、茂木英明、野口佳裕、宇佐美真一
    • Organizer
      第26回日本耳科学会
    • Place of Presentation
      ホテル国際21(長野市)
    • Year and Date
      2016-10-05
    • Related Report
      2016 Annual Research Report
  • [Presentation] 次世代シーケンサーを用いた日本人症候群性難聴の遺伝子解析2016

    • Author(s)
      出浦美智恵、西尾信哉、宇佐美真一
    • Organizer
      第26回日本耳科学会
    • Place of Presentation
      ホテル国際21(長野市)
    • Year and Date
      2016-10-05
    • Related Report
      2016 Annual Research Report
  • [Presentation] 難聴の遺伝子診断の臨床応用2016

    • Author(s)
      西尾信哉、宇佐美真一
    • Organizer
      第78回耳鼻咽喉科臨床学会
    • Place of Presentation
      城山観光ホテル(鹿児島市)
    • Year and Date
      2016-06-23
    • Related Report
      2016 Annual Research Report
  • [Presentation] 若年発症型進行性感音難聴を呈したTMPRSS3遺伝子変異例2016

    • Author(s)
      笹森かおり、金城信祐、小林有美子、平海晴一、佐藤宏明、宇佐美真一
    • Organizer
      第78回耳鼻咽喉科臨床学会
    • Place of Presentation
      城山観光ホテル(鹿児島市)
    • Year and Date
      2016-06-23
    • Related Report
      2016 Annual Research Report
  • [Presentation] Comprehensive vestibular functions of hereditary hearing loss patiens with GJB2 mutations.2016

    • Author(s)
      Tsukada K, Fukuoka H, Usami S.
    • Organizer
      29th Barany Society Meeting 2016
    • Place of Presentation
      Seoul, Korea
    • Year and Date
      2016-06-05
    • Related Report
      2016 Annual Research Report
    • Int'l Joint Research
  • [Presentation] 次世代シーケンサーによって見出された日本人難聴患者におけるWFS1遺伝子変異の検討2016

    • Author(s)
      小林正史、宮川麻衣子、茂木英明、宇佐美真一
    • Organizer
      第117回 日本耳鼻咽喉科学会
    • Place of Presentation
      名古屋国際会議場
    • Year and Date
      2016-05-18
    • Related Report
      2016 Annual Research Report
  • [Presentation] 先天性難聴の遺伝子診断における遺伝子コピー数変化(Copy Number Variation)同定の試み2016

    • Author(s)
      茂木英明、宮川麻衣子、宇佐美真一
    • Organizer
      第117回 日本耳鼻咽喉科学会
    • Place of Presentation
      名古屋国際会議場
    • Year and Date
      2016-05-18
    • Related Report
      2016 Annual Research Report
  • [Presentation] 次世代シーケンサーを用いた日本人難聴患者におけるPOU4F3遺伝子変異の検討2016

    • Author(s)
      北野友裕、宮川麻衣子、茂木英明、宇佐美真一
    • Organizer
      第117回 日本耳鼻咽喉科学会
    • Place of Presentation
      名古屋国際会議場
    • Year and Date
      2016-05-18
    • Related Report
      2016 Annual Research Report
  • [Presentation] Deafness gene variations in a 1,120 nonsyndromic hearing loss cohort: Molecular epidemiology and deafness mutation spectrum of patients in Japan.2016

    • Author(s)
      Nishio S, Usami S.
    • Organizer
      第13回国際人類遺伝学会
    • Place of Presentation
      京都国際会議場
    • Year and Date
      2016-04-03
    • Related Report
      2016 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Massively parallel DNA sequencing for deafness applied to social health insurance-based genetic testing.2016

    • Author(s)
      Usami S.
    • Organizer
      第13回国際人類遺伝学会
    • Place of Presentation
      京都国際会議場
    • Year and Date
      2016-04-03
    • Related Report
      2016 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Massively parallel DNA sequencing for deafness applied to social health insurance-based genetic testing.2016

    • Author(s)
      Usami S.
    • Organizer
      第13回国際人類遺伝学会
    • Place of Presentation
      国立京都国際会館(京都府京都市)
    • Year and Date
      2016-03-06
    • Related Report
      2015 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Deafness gene variations in a 1,120 nonsyndromic hearing loss cohort: Molecular epidemiology and deafness mutation spectrum of patients in Japan.2016

    • Author(s)
      Nishio S, Usami S.
    • Organizer
      第13回国際人類遺伝学会
    • Place of Presentation
      国立京都国際会館(京都府京都市)
    • Year and Date
      2016-03-05
    • Related Report
      2015 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Benefit of Genetic Testing for Cochlear Implantation Cadidates.2015

    • Author(s)
      Usami SI, Miyagawa M, Nishio SY, Moteki H
    • Organizer
      2015 Annual CORLAS Meeting
    • Place of Presentation
      Palace Hotel, San Francisco USA
    • Year and Date
      2015-08-25
    • Related Report
      2015 Annual Research Report
    • Int'l Joint Research
  • [Presentation] 次世代シーケンスの臨床応用~先天性難聴、遺伝性結合組織疾患のパネル解析を中心に~2015

    • Author(s)
      宇佐美真一
    • Organizer
      第39回日本遺伝カウンセリング学術集会
    • Place of Presentation
      三井ガーデンホテル千葉(千葉県千葉市)
    • Year and Date
      2015-06-28
    • Related Report
      2015 Annual Research Report
    • Invited
  • [Presentation] 難聴の遺伝子診断とその社会的貢献2015

    • Author(s)
      宇佐美真一
    • Organizer
      第116回日本耳鼻咽喉科学会総会
    • Place of Presentation
      東京国際フォーラム(東京都千代田区)
    • Year and Date
      2015-05-22
    • Related Report
      2015 Annual Research Report
    • Invited
  • [Presentation] Importance of Genetic Testing for Cochlear Implantation Candidate2015

    • Author(s)
      Usami S.
    • Organizer
      10th APSCI 2015
    • Place of Presentation
      北京、中国
    • Year and Date
      2015-05-03
    • Related Report
      2015 Annual Research Report
    • Int'l Joint Research

URL: 

Published: 2015-04-16   Modified: 2019-03-29  

Information User Guide FAQ News Terms of Use Attribution of KAKENHI

Powered by NII kakenhi