Molecular mechanism of genetic mutation of fibroblast growth factor receptor type 3 (FGFR3) gene in abnormalities of cranial formation : Relation to the action of Parathyroid hormone

• Project/Area Number: 20790730
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Single-year Grants
• Research Field: Pediatrics
• Research Institution: Okayama University
• Principal Investigator: HASEGAWA Kousei Okayama University, 岡山大学病院, 助教 (90467738)
• Project Period (FY): 2008 – 2010
• Project Status: Completed (Fiscal Year 2010)
• Budget Amount: ¥4,160,000 (Direct Cost: ¥3,200,000、Indirect Cost: ¥960,000); Fiscal Year 2010: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000); Fiscal Year 2009: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000); Fiscal Year 2008: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
• Keywords: 線維芽細胞増殖因子受容体3型 / 軟骨異栄養症 / 副甲状腺ホルモン / 軟骨無形成症 / 四肢短縮型低身長 / 頭蓋骨早期癒合

Research Abstract

To obtain the clinical information of abnormalities of cranial formation like craniosynostosis in FGFR3 related disorders, we conducted the genetic analysis of 42 patients who suspected of FGFR3 related disorders and we found genetic mutation in FGFR3 gene in 21 patients ; achondroplasia (G380R:12), Hypochondroplasia (N540K:4, S84L:1)、Thanatophoric dysplasia type I (R248C:1, Y373C:2), Thanatophoric dysplasia type II (K650E). In these 21 patients, craniosynostosis was not observed.