Research on new genes contributing to craniofacial development

2016 Fiscal Year Final Research Report

• Project/Area Number: 15H06389
• Research Category: Grant-in-Aid for Research Activity Start-up
• Allocation Type: Single-year Grants
• Research Field: Orthodontics/Pediatric dentistry
• 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): 2015-08-28 – 2017-03-31
• Keywords: 遺伝学 / 先天異常 / 歯科矯正学

Outline of Final Research Achievements

A cleft lip and/or palate is the most common craniofacial abnormality, and the frequency is higher in Asian population. The onset of cleft caused by a combination genetic and environmental factors.
In this study, we tried to clarify genetic factors related to craniofacial malformations by exome sequencing. We performed whole-exome sequencing for 7 patients and 2 unaffected in three families with cleft lip and/or palate.
As a result, we couldn’t detect no common mutations in all three families, nor the previously reported genetic variants such as MSX1 and TGFB2. However, we found two mutations in the same gene observed in two families (one is novel, and the other is already assigned Reference SNP ID). We are going to create transgenic mices with novel mutation in order to investigate the roles of this mutation.

Free Research Field

歯科矯正学