Molecular genetic anlaysis of CASR gene

Research Project

Project/Area Number	26860715
Research Category	Grant-in-Aid for Young Scientists (B)
Allocation Type	Multi-year Fund
Research Field	Endocrinology
Research Institution	National Center for Child Health and Development
Principal Investigator	Nakamura Akie 国立研究開発法人国立成育医療研究センター, 分子内分泌研究部, 研究員 (90724708)
Project Period (FY)	2014-04-01 – 2016-03-31
Project Status	Completed (Fiscal Year 2015)
Budget Amount *help	¥3,770,000 (Direct Cost: ¥2,900,000、Indirect Cost: ¥870,000) Fiscal Year 2015: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000) Fiscal Year 2014: ¥2,210,000 (Direct Cost: ¥1,700,000、Indirect Cost: ¥510,000)
Keywords	カルシウム / カルシウム異常症 / カルシウム感知受容体（CASR)
Outline of Final Research Achievements	To clarify the moleculr basis of calcium homeostasis, we performed mutation analysis for the genes associated with calcium homeostasis using next-generation sequencing . We identified novel CASR mutations in one familial case and one sporadic case with hypocalcemia. Furthermore, we found out novel pathotenic mutations in FAM111A, CLDN16 and GATA3. We also found out that complex genomic rearrangement within the GNAS region are associated with familial pseudohypoparathyoroidism type 1b.