Genetic evaluation of patients with intellectual disability using chromosomal microarray and next-generation sequencing

2016 Fiscal Year Final Research Report

• Project/Area Number: 26461522
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Pediatrics
• Research Institution: Shinshu University
• Principal Investigator: TAKANO Kyoko 信州大学, 学術研究院医学系, 助教 (70392420)
• Co-Investigator(Renkei-kenkyūsha): MATSUMOTO Naomichi 横浜市立大学, 医学研究科, 教授 (80325638) ; KANAME Tadashi 国立研究開発法人国立成育医療研究センター, ゲノム医療研究部, 部長 (40264288)
• Project Period (FY): 2014-04-01 – 2017-03-31
• Keywords: 知的障害 / 次世代シークエンサー / マイクロアレイ染色体検査 / 疾患パネル解析 / エクソーム解析 / 遺伝カウンセリング

Outline of Final Research Achievements

Intellectual disability (ID) is commonly defined by an intelligence quotient below 70 and starts before the age of 18. ID is one of the most frequent developmental disorders in children, and its prevalence is 1-3% in the general population. However, more than half of ID was of unknown etiology due to its clinical and genetic heterogeneities. The “ID clinic” was established at the Center for Medical Genetics, Shinshu University Hospital in April 2014. We provide clinical diagnosis, genetic evaluation, and genetic counseling to patients with ID. Genetic evaluation includes chromosomal microarray analysis, targeted NGS using the panel of ID-related genes, and exome sequencing. To date, 109 patients have visited the “ID clinic” and genetic causes were identified in 27 patients (24.8%). Genetic evaluation in the “ID clinic” is thought to be useful in providing definitive diagnosis, expected clinical course, and recurrence risk to patients and their family.

Free Research Field

小児神経学、小児科学、臨床遺伝学