Gene identification using the efficient massive parallel sequencing and elucidation of the pathomechanism of the intractable diseases

2015 Fiscal Year Final Research Report

• Project/Area Number: 25293235
• Research Category: Grant-in-Aid for Scientific Research (B)
• Allocation Type: Partial Multi-year Fund
• Section: 一般
• Research Field: Pediatrics
• Research Institution: Yokohama City University
• Principal Investigator: MIYAKE Noriko 横浜市立大学, 医学部, 准教授 (40523494)
• Research Collaborator: OKAMOTO Nobuhiko ; MIZUNO Seiji ; HIRAKI Yoko ; TSUKAGUCHI Hiroyasu ; KOSHIMIZU Eriko ; IMAGAWA Eri ; FUJITA Atsushi
• Project Period (FY): 2013-04-01 – 2016-03-31
• Keywords: 単一遺伝性疾患 / エクソーム解析 / ステロイド抵抗性ネフローゼ症候群 / NUP107 / 低頻度体細胞モザイク / TSC2

Outline of Final Research Achievements

In this study, we analyzed the patients with Aicardi syndrome, Galloway-Mowat syndrome, steroid-resistant nephrotic syndrome, pulmonary lymphangioleiomyomatosis (pLAM), hypermobility type Ehlers-Danlos syndrome by whole exome sequence. Among them, we successfully identified the novel disease gene, nucleoporin 107kDa (NUP107), which is responsible for early-childhood onset steroid resistant nephrotic syndrome. In addition, we performed targeted ultra-deep sequencing for the TSC1/TSC2 genes in sporadic pLAM patients and identified somatic mosaic TSC2 mutation in six out of nine patients. This result indicated that low prevalence somatic TSC2 mutation could be associated with sporadic pLAM.

Free Research Field

人類遺伝学