Clinical and genetic characterization of patients with intellectual disability caused by chromosome structural abnormalities.

2015 Fiscal Year Final Research Report

• Project/Area Number: 25461576
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Pediatrics
• Research Institution: Institute for Developmental Research, Aichi Human Service Center
• Principal Investigator: Fukushi Daisuke 愛知県心身障害者コロニー発達障害研究所, 遺伝学部, 研究員 (90397159)
• Co-Investigator(Kenkyū-buntansha): Yamada Yasukazu 愛知県心身障害者コロニー発達障害研究所, 遺伝学部, 室長 (70191343) ; Yamada Kenichiro 愛知県心身障害者コロニー発達障害研究所, 遺伝学部, 主任研究員 (30291173)
• Project Period (FY): 2013-04-01 – 2016-03-31
• Keywords: 先天異常 / 均衡型相互転座 / 逆位 / 欠失

Outline of Final Research Achievements

We performed clinical and chromosomal analyses of three cases with intellectual disability (ID). Case 1: the chromosomal inversion of 5p11-p15.1 was found to have no association with the severe ID and growth retardation (GR) of the patient, because the inversion with the same breakpoints was also observed in her healthy father. Case 2: we identified a translational breakpoint in SOX5 at 12p12, and thus, this is the second case of SOX5 haploinsufficiency caused by de novo balanced chromosomal translocation presenting with mild ID, characteristic facial appearance, and autistic features. Case 3: Nager syndrome is characterized by retrognathia and radioulnar synostosis, and is mainly caused by the haploinsufficiency of SF3B4. We identified a 347-kb microdeletion that included SF3B4 in 1q21.2 from the patient with Nager syndrome. The deletion contained 19 genes and those genes may be associated with the uncommon features of Nager syndrome, including moderate ID, GR, and profound deafness.

Free Research Field

細胞遺伝学