Genotype and craniofacial phenotype correlation in GLUT-1 DS patients

2019 Fiscal Year Final Research Report

• Project/Area Number: 18K17255
• Research Category: Grant-in-Aid for Early-Career Scientists
• Allocation Type: Multi-year Fund
• Review Section: Basic Section 57070:Developmental dentistry-related
• Research Institution: Osaka 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
• Keywords: 遺伝子疾患 / 咬合異常 / トランスポーター異常症

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.

Free Research Field

矯正学

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。