| Project/Area Number |
15K19538
|
|---|
| 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 |
Suzuki Erina 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, (非)研究員 (60726785)
|
|---|
| Project Period (FY) |
2015-04-01 – 2017-03-31
|
| Project Status |
Completed (Fiscal Year 2016)
|
| Budget Amount *help |
¥4,030,000 (Direct Cost: ¥3,100,000、Indirect Cost: ¥930,000)
Fiscal Year 2016: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
Fiscal Year 2015: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
|
|---|
| Keywords | 次世代シークエンサー / アレイCGH / 変異 / 染色体異常 / 遺伝子 / 疾患 |
|---|
| Outline of Final Research Achievements |
We conducted next generation sequencing-based comprehensive screening of nucleotide-level mutations and array comparative genomic hybridization-based screening of genomic rearrangements for 218 samples obtained from patients with delayed puberty and 48 samples obtained from patients with precocious puberty,. As a result, we found (i) a novel inactivating SOX10 mutation in a patient with Kallmann syndrome accompanied by deafness and iris hypopigmentation; (ii) complex X chromosome rearrangements in two patients with ovarian dysfunction, and (iii) the first activating PROKR2 mutation in a patient with precocious puberty.
|
