Whole-exome sequencing in families with late-onset developmental glaucoma

2016 Fiscal Year Final Research Report

• Project/Area Number: 26293077
• Research Category: Grant-in-Aid for Scientific Research (B)
• Allocation Type: Partial Multi-year Fund
• Section: 一般
• Research Field: Human genetics
• Research Institution: Yokohama City University
• Principal Investigator: MIZUKI Nobuhisa 横浜市立大学, 医学(系)研究科(研究院), 教授 (90336579)
• Co-Investigator(Kenkyū-buntansha): 野村 英一 横浜市立大学, 医学部, 講師 (00347303) ; 目黒 明 横浜市立大学, 医学(系)研究科(研究院), 特任講師 (60508802)
• Research Collaborator: INOUE Rishu ; NANBA Reiko ; SATO Mayuki
• Project Period (FY): 2014-04-01 – 2017-03-31
• Keywords: 発達緑内障 / 遺伝子 / エクソーム解析

Outline of Final Research Achievements

Developmental glaucoma is a type of glaucoma that affects babies and young children. It is caused by congenital morphological abnormalities of the anterior chamber angle. The purpose of this study was to identify causative genes for late-onset developmental glaucoma.
In this study, we identified novel causative genetic variants for late-onset developmental glaucoma by exome analysis in families with the disease. All of these variants had a significant impact on the function of their located genes. Our findings provide new insights into the genetic tendency underlying developmental glaucoma and allow for clearer interpretation of the etiology and pathophysiology of developmental glaucoma at the molecular level.

Free Research Field

眼科学、分子遺伝学