The frequency of cases with imprinting disorders in hypotonic neonates and infants

2017 Fiscal Year Final Research Report

• 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
• 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

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.

Free Research Field

臨床遺伝学