ナカムラ　フミオ   Fumio Nakamura   中村　史雄    所属   医学部 医学科    職種   教授・基幹分野長
論文種別	原著
言語種別	英語
査読の有無	査読あり
表題	Monoallelic CRMP1 gene variants cause neurodevelopmental disorder.
掲載誌名	正式名：eLife 略　 称：Elife ISSNコード：2050084X/2050084X
掲載区分	国外
巻・号・頁	11,pp.e80793
国際共著	国際共著
著者・共著者	Ravindran Ethiraj, Arashiki Nobuto, Becker Lena-Luise, Takizawa Kohtaro, Lévy Jonathan, Rambaud Thomas, Makridis Konstantin L, Goshima Yoshio, Li Na, Vreeburg Maaike, Demeer Bénédicte, Dickmanns Achim, Stegmann Alexander P A, Hu Hao, Nakamura Fumio, Kaindl Angela M
担当区分	責任著者
発行年月	2022/12/13
概要	Collapsin response mediator proteins (CRMPs) are key for brain development and function. Here, we link CRMP1 to a neurodevelopmental disorder. We report heterozygous de novo variants in the CRMP1 gene in three unrelated individuals with muscular hypotonia, intellectual disability, and/or autism spectrum disorder. Based on in silico analysis these variants are predicted to affect the CRMP1 structure. We further analyzed the effect of the variants on the protein structure/levels and cellular processes. We showed that the human CRMP1 variants impact the oligomerization of CRMP1 proteins. Moreover, overexpression of the CRMP1 variants affect neurite outgrowth of murine cortical neurons. While altered CRMP1 levels have been reported in psychiatric diseases, genetic variants in CRMP1 gene have never been linked to human disease. We report for the first-time variants in the CRMP1 gene and emphasize its key role in brain development and function by linking directly to a human neurodevelopmental disease.
DOI	10.7554/eLife.80793
PMID	36511780