The frequency of cases with imprinting disorders in hypotonic neonates and infants
| Project/Area Number |
15K09734
|
|---|
| Research Category |
Grant-in-Aid for Scientific Research (C)
|
| Allocation Type | Multi-year Fund |
|---|
| Section | 一般 |
|---|
| Research Field |
Embryonic/Neonatal medicine
|
|---|
| Research Institution | National Center for Child Health and Development |
|---|
Principal Investigator |
Matsubara Keiko 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, 上級研究員 (90542952)
|
|---|
| Co-Investigator(Kenkyū-buntansha) |
和田 友香 国立研究開発法人国立成育医療研究センター, 周産期センター, 医師 (80399485)
|
|---|
| Co-Investigator(Renkei-kenkyūsha) |
Shibasaki Jun 神奈川県立こども医療センター, 新生児科, 医長 (30540471)
|
|---|
| Project Period (FY) |
2015-04-01 – 2018-03-31
|
| Project Status |
Completed (Fiscal Year 2017)
|
| Budget Amount *help |
¥4,810,000 (Direct Cost: ¥3,700,000、Indirect Cost: ¥1,110,000)
Fiscal Year 2017: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
Fiscal Year 2016: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2015: ¥2,340,000 (Direct Cost: ¥1,800,000、Indirect Cost: ¥540,000)
|
|---|
| Keywords | インプリンティング疾患 / 筋緊張低下 / 染色体微細構造異常 / インプリンティング異常症 / メチル化異常 / 染色体構造異常 |
|---|
| Outline of Final Research Achievements |
In this study, we focused on the genetic background among hypotonic neonates and infants. We performed molecular analyses, such as pyrosequencing and aCGH for a screening of human imprinting disorders (IDs) and chromosomal rearrangement (CR) respectively. Among 70 cases showing hypotonia during their neonatal or infantile period, we identified 10 cases with IDs (14.3%, 1 with Silver-Russell syndrome; SRS, 1 with Temple syndrome; TS14, 7 with Prader-Willi syndrome; PWS and 1 with Angelman syndrome) and 9 with CR (12.9%). Our study indicated that IDs and CR should be considered as possible diagnoses for hypotonic children. Besides, this result suggested the usefulness of methylation screening targeting not only Prader-Willi syndrome but also other IDs (SRS, TS14, etc.) in hypotonic children.
|
Report
(4 results)
Research Products
(27 results)
-
-
-
-
-
[Journal Article] Genetic heterogeneity of patients with suspected Silver-Russell syndrome: genome-wide copy number analysis in 82 patients without imprinting defects.2017
Author(s)
Inoue T, Nakamura A, Fuke T, Yamazawa K, Sano S, Matsubara K, Mizuno S, Matsukura Y, Harashima C, Hasegawa T, Nakajima H, Tsumura K, Kizaki Z, Oka A, Ogata T, Fukami M, Kagami M.
-
Journal Title
Clin Epigenetics
Volume: 9
Issue: 1
Pages: 52-52
DOI
Related Report
Peer Reviewed / Open Access
-
-
-
-
-
[Journal Article] Complex Genomic Rearrangement Within the GNAS Region Associated With Familial Pseudohypoparathyroidism Type 1b.2016
Author(s)
Nakamura A, Hamaguchi E, Horikawa R, Nishimura Y, Matsubara K, Sano S, Nagasaki K, Matsubara Y, Umezawa A, Tajima T, Ogata T, Kagami M, Okamura K, Fukami M.
-
Journal Title
J Clin Endocrinol Metab
Volume: 101(7)
Issue: 7
Pages: 2623-7
DOI
Related Report
Peer Reviewed / Open Access
-
-
-
-
-
-
[Journal Article] Abnormalities in chromosome 6q24 as a cause of early-onset, non-obese, non-autoimmune diabetes mellitus without history of neonatal diabetes.2014
Author(s)
Yorifuji T, Matsubara K, Sakakibara A, Hashimoto Y, Kawakita R, Hosokawa Y, Fujimaru R, Murakami A, Tamagawa N, Hatake K, Nagasaka H, Suzuki J, Urakami T, Izawa M, Kagami M.
-
Journal Title
Diabet Med.
Volume: ?
Issue: 7
Pages: 963-967
DOI
Related Report
Peer Reviewed
-
-
-
-
-
-
-
-
-
-
-
