Comprehensive next-generation sequencing analyses of the regulation of onset of puberty

2014 Fiscal Year Final Research Report

• Project/Area Number: 24591520
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Pediatrics
• Research Institution: Nagoya City University
• Principal Investigator: MIZUNO HARUO 名古屋市立大学, 医学(系)研究科(研究院), 准教授 (70363942)
• Co-Investigator(Kenkyū-buntansha): SAITOH Shinji 名古屋市立大学, 大学院医学研究科, 教授 (00281824)
• Project Period (FY): 2012-04-01 – 2015-03-31
• Keywords: 小児内分泌学 / 思春期

Outline of Final Research Achievements

We investigated comprehensive 49 genes analyses for fifty-one patients with precocious and delayed puberty using Ion Torrent next generation sequencing. In ten patients with idiopathic precocious puberty, we could not find any mutations in these genes. Abnormal delay of secondary sexual characteristics or bilateral cryptorchidism and micropenis without olfactory blub was noted in the forty-one patients with congenital hypogonadotropic hypogonadism, including patients with Kallmann syndrome and CHARGE syndrome. We discovered KAL1, FGFR1, CHD7 and TACR3 mutations during our study. As we could not get the sample of patients with mild precocious and delayed puberty, we could not lead a useful projection of onset of puberty during an observation of short stature children.

Free Research Field

小児科