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Genotype and craniofacial phenotype correlation in GLUT-1 DS patients

Research Project

Project/Area Number 18K17255
Research Category

Grant-in-Aid for Early-Career Scientists

Allocation TypeMulti-year Fund
Review Section Basic Section 57070:Developmental dentistry-related
Research InstitutionOsaka University

Principal Investigator

Morita Chisato  大阪大学, 歯学部附属病院, 医員 (50754727)

Project Period (FY) 2018-04-01 – 2020-03-31
Project Status Completed (Fiscal Year 2019)
Budget Amount *help
¥4,160,000 (Direct Cost: ¥3,200,000、Indirect Cost: ¥960,000)
Fiscal Year 2019: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2018: ¥2,730,000 (Direct Cost: ¥2,100,000、Indirect Cost: ¥630,000)
Keywords遺伝子疾患 / 咬合異常 / トランスポーター異常症 / トランスポーター
Outline of Final Research Achievements

We investigated craniofacial features with glucose transporter 1 deficiency syndrome (GLUT1-DS), which is an autosomal dominant genetic disease. Cross sectional study was performed using 9 GLUT1-DS patients, aged from 8 to 49 years old. All of the participants underwent intraoral and radiographic examinations. Lateral cephalogram measurement was performed for investigating possible craniofacial features in GLUT1-DS patients. Most of them showed skeletal discrepancy with large overjet.
However, we could not find a clear correlation between the type of mutation and the craniofacial features, such as malocclusion severity in this study. This failure could be due to the small sample size and it may be possible to find a genotype and craniofacial phenotype correlation in the future by increasing the number of samples and performing detailed craniofacial analysis.

Academic Significance and Societal Importance of the Research Achievements

本疾患のように咬合異常との関連が明らかとなっていない疾患において、その原因を解明することは早期治療やより有効で根本的な分子標的薬の探索や遺伝子治療に応用できる可能性が期待でき、非常に高い意義をもつと考えられる。

Report

(3 results)
  • 2019 Annual Research Report   Final Research Report ( PDF )
  • 2018 Research-status Report
  • Research Products

    (14 results)

All 2019 2018

All Journal Article (2 results) (of which Peer Reviewed: 2 results,  Open Access: 1 results) Presentation (11 results) (of which Int'l Joint Research: 3 results) Funded Workshop (1 results)

  • [Journal Article] Analysis of craniofacial character of glucose transporter type I deficiency syndrome2019

    • Author(s)
      Shinsuke Itoh, Hiroshi Kurosaka, Yuka Murata, Chisato Morita, Kuriko Kagitani-Shimono, Shin Nabatame, Keiichi Ozono, Takashi Yamashiro
    • Journal Title

      Orthodontic waves

      Volume: 78 Pages: 151-159

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed
  • [Journal Article] A novel PTCH1 mutation in basal cell nevus syndrome with rare craniofacial features2019

    • Author(s)
      Murata Y, Kurosaka H, Ohata Y, Aikawa T, Takahata S, Fujii K, Miyashita T, Morita C, Inubushi T, Kubota T, Sakai N, Ozono K, Kogo M, Yamashiro T.
    • Journal Title

      Human Genome Variation

      Volume: 6 Issue: 1 Pages: 16-16

    • DOI

      10.1038/s41439-019-0047-9

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed / Open Access
  • [Presentation] Osteocyte specific Hyaluronic acid disruption reduced bone density in mice model2019

    • Author(s)
      Chisato Morita
    • Organizer
      4th Meeting of the International Association for Dental Research Asia Pacific Region 2019
    • Related Report
      2019 Annual Research Report
    • Int'l Joint Research
  • [Presentation] 骨細胞特異的ヒアルロン酸合成酵素ノックアウトマウスの解析2019

    • Author(s)
      森田 知里, 犬伏 俊博, 伊藤 慎将, 宇佐美 悠, 豊澤 悟, 山口 祐, 山城 隆
    • Organizer
      第61回 歯科基礎医学会学術大会
    • Related Report
      2019 Annual Research Report
  • [Presentation] 睡眠関連呼吸障害に対して、多分割Le Fort I型骨切り術を応用した2症例2019

    • Author(s)
      相川 友直, 原田 丈司, 新宅 優子, 山中 美穂, 森田 知里, 伊藤 慎将, 山城 隆, 古郷 幹彦
    • Organizer
      第29回 日本顎変形症学会総会・学術大会
    • Related Report
      2019 Annual Research Report
  • [Presentation] 上顎骨前方部骨延長術を行った両側性口唇口蓋裂患者の長期保定症例2019

    • Author(s)
      森田 知里, 伊藤 慎将, 犬伏 俊博, 相川 友直, 古郷 幹彦, 山城 隆
    • Organizer
      第43回 日本口蓋裂学会総会・学術集会
    • Related Report
      2019 Annual Research Report
  • [Presentation] A case report of Ehlers-Danlos syndrome patient with craniofacial anomaly and severe enamel hypoplasia.2019

    • Author(s)
      Chisato Morita
    • Organizer
      Scientific Meeting on the Rarer Types of Ehlers-Danlos Syndromes
    • Related Report
      2019 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Novel mutation of DLC1 in familial cleft palate case2018

    • Author(s)
      Kurosaka H, Wu Y, Wang Q, Morita C, Nakaya A, Okazaki A, Kobayashi K, Kikuchi M, Mashimo T, Uno Y, Oki S, Yamashiro T
    • Organizer
      Gordon Reseach Conference
    • Related Report
      2018 Research-status Report
    • Int'l Joint Research
  • [Presentation] 口唇口蓋裂の新規原因遺伝子DLC1の機能解析2018

    • Author(s)
      黒坂 寛、森田 知里、 山城 隆
    • Organizer
      第42回 日本口蓋裂学会総会・学術大会
    • Related Report
      2018 Research-status Report
  • [Presentation] グルコーストランスポーター1型異常症の顎顔面口腔領域における特徴および矯正歯科治療の経過に関する報告2018

    • Author(s)
      村田有香、黒坂 寛、伊藤慎将、森田知里、山城 隆
    • Organizer
      第60回近畿東海矯正歯科学会学術大会
    • Related Report
      2018 Research-status Report
  • [Presentation] 優性栄養障害型表皮水疱症に起因した右側臼歯部交叉咬合を呈する1症例2018

    • Author(s)
      森田知里、谷川千尋、山城 隆
    • Organizer
      第77回日本矯正歯科学会学術大会
    • Related Report
      2018 Research-status Report
  • [Presentation] 骨細胞への分化誘導法を確立する新たなアプローチ2018

    • Author(s)
      村田有香、犬伏俊博、山本沙優里、森田知里、伊藤慎将、黒坂 寛、山城 隆
    • Organizer
      第77回日本矯正歯科学会学術大会
    • Related Report
      2018 Research-status Report
  • [Presentation] 歯科矯正用アンカースクリューを用いたメカニクスを応用した上下空隙歯列を伴う骨格性下顎前突症例2018

    • Author(s)
      伊藤慎将、柴 大樹、森田知里、犬伏俊博、黒坂 寛、山城 隆
    • Organizer
      第77回日本矯正歯科学会学術大会
    • Related Report
      2018 Research-status Report
  • [Funded Workshop] 2019 SBP Rare Disease Day Symposium2019

    • Related Report
      2018 Research-status Report

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Published: 2018-04-23   Modified: 2021-02-19  

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