Exhaustive analysis of nonsyndoromic Oligodoitia in multiple Japanese families

• Project/Area Number: 25861996
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Orthodontics/Pediatric dentistry
• Research Institution: Hokkaido University
• Principal Investigator: KIDA MIYUKI 北海道大学, 医学(系)研究科(研究院), 客員研究員 (80507442)
• Project Period (FY): 2013-04-01 – 2016-03-31
• Project Status: Completed (Fiscal Year 2015)
• Budget Amount: ¥3,900,000 (Direct Cost: ¥3,000,000、Indirect Cost: ¥900,000); Fiscal Year 2014: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000); Fiscal Year 2013: ¥2,860,000 (Direct Cost: ¥2,200,000、Indirect Cost: ¥660,000)
• Keywords: 遺伝性非症候性多数歯欠損症 / 網羅的解析 / 遺伝子解析 / 口腔遺伝性疾患 / 多数歯欠損症

Outline of Final Research Achievements

Oligodontia designates the congenital absence of 6 or more permanent teeth, excluding the third molar. I investigated three Japanese families with nonsyndoromic Oligodontia. All affected members in three families were revealed very severe Oligodontia phenotype clinically, number of missing teeth of them were over 10.
The early diagnosis and decision on courses of treatment are very important for patients with nonsyndoromic Oligodontia to maintain their quality of life.
The aim of the present study revealed the candidate gene of nonsyndoromic Oligodontia and unique SNPs

Research Products

• [Journal Article] Outcomes in two Japanese adenosine deaminase-deficiency patients treated by stem cell gene therapy with no cytoreductive conditioning. (2015)
  • Author(s): Otsu M, Yamada M, Nakajima S, Kida M, Maeyama Y, Hatano N, Toita N, Takezaki S, Okura Y, Kobayashi R, Matsumoto Y, Tatsuzawa O, Tsuchida F, Kato S, Kitagawa M, Mineno J, Hershfield MS, Bali P, Candotti F, Onodera M, Kawamura N, Sakiyama Y, Ariga T.
  • Journal Title: Journal of Clinical Immunology Volume: 35(4) Issue: 4 Pages: 384-398
  • DOI: 10.1007/s10875-015-0157-1
  • NAID: 120005752845
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Presentation] 遺伝性を疑う非症候性多数歯欠損症例におけるPAX9 / MSX1解析 (2014)
  • Author(s): 関（貴田）みゆき
  • Organizer: 第52回 日本小児歯科学会大会
  • Place of Presentation: 品川区立総合区民会館（東京都・品川区）
  • Year and Date: 2014-05-16 – 2014-05-17
• [Presentation] 遺伝性を疑う非症候性多数歯欠損症例におけるPAX9 / MSX1解析 (2014)
  • Author(s): 関 みゆき，片倉 麻里子，白川 哲夫
  • Organizer: 第52回日本小児歯科学会大会
  • Place of Presentation: きゅりあん（東京都品川区）