Genetic mechanism of split-hand/foot malformation with or without long bone deficiency

2016 Fiscal Year Final Research Report

• Project/Area Number: 26870255
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Human genetics; Pediatrics
• Research Institution: Hamamatsu University School of Medicine
• Principal Investigator: Nagata Eiko 浜松医科大学, 医学部附属病院, 特任助教 (90535569)
• Co-Investigator(Renkei-kenkyūsha): Fukami Maki 国立成育医療研究センター, 分子内分泌研究部, 部長 (40265872) ; Ogata Tsutomu 浜松医科大学, 小児科, 教授 (40169173)
• Project Period (FY): 2014-02-01 – 2017-03-31
• Keywords: 先天異常 / 遺伝子解析 / 臨床遺伝学

Outline of Final Research Achievements

BHLHA9 copy-number gain constitutes a strong susceptibility factor with a dosage effect for limb malformations. Japanese founder duplication was generated through a replication-based mechanism and underwent subsequent triplication and haplotype modification through recombination- based mechanisms. Clinical variability appears to be due to multiple factors.

Free Research Field

臨床遺伝学