Identification of the genes associated with spina bifida harboring intellectual disability

2016 Fiscal Year Final Research Report

• Project/Area Number: 26462225
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Neurosurgery
• Research Institution: Institute for Developmental Research, Aichi Human Service Center
• Principal Investigator: Wakamatsu Nobuaki 愛知県心身障害者コロニー発達障害研究所, 遺伝学部, 部長 (60274198)
• Research Collaborator: NOMURA NORIKO ; FUKUSHI DAISUKE ; KUROSAWA KENJI ; YOKOCHI KENJI
• Project Period (FY): 2014-04-01 – 2017-03-31
• Keywords: 二分脊椎 / 2番染色体短腕 / 部分トリソミー / 5p-症候群

Outline of Final Research Achievements

The partial trisomy 2p24 has been reported to be associated with NTDs such as anencephaly, encephalocele, and spina bifida. We report the cases of 2 siblings with trisomy 2p24.3pter and monosomy 5p14.3pter caused by paternal translocation t(2;5)(p24.3;p14.3). Of the 2 siblings, the elder sister had spina bifida. We determined the nucleotide sequences of chromosomal breakpoints and found that the sizes of trisomy 2p and monosomy 5p segments were 18.77 and 17.89 Mb, respectively. NTDs were present in 4 of 7 previously reported patients as well as in 1 patient examined of the present study. Comparison of clinical features of the patients with trisomy 2p and monosomy 5p including our cases, we identified characteristic features of trisomy 2p24.3pter. Increased gene dosages of dosage sensitive genes or genes at the trisomy segment (2p24.3) of the presented patients could be associated with NTDs of patients with trisomy 2p.

Free Research Field

臨床遺伝学