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Nonsense mutation in CFAP43 causes normal-pressure hydrocephalus with ciliary abnormalities

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Title: Nonsense mutation in CFAP43 causes normal-pressure hydrocephalus with ciliary abnormalities
Authors: Morimoto, Yoshiro / Yoshida, Shintaro / Kinoshita, Akira / Satoh, Chisei / Mishima, Hiroyuki / Yamaguchi, Naohiro / Matsuda, Katsuya / Sakaguchi, Miako / Tanaka, Takeshi / Komohara, Yoshihiro / Imamura, Akira / Ozawa, Hiroki / Nakashima, Masahiro / Kurotaki, Naohiro / Kishino, Tatsuya / Yoshiura, Koh-ichiro / Ono, Shinji
Issue Date: 19-Apr-2019
Publisher: Wolters Kluwer Health, Inc.
Citation: Neurology, 92(20), pp.e2364-e2374; 2019 
Abstract: OBJECTIVE: To identify genes related to normal-pressure hydrocephalus (NPH) in one Japanese family with several members with NPH. METHODS:We performed whole-exome sequencing (WES) on a Japanese family with multiple individuals with NPH and identified a candidate gene.Then we generated knockout mouse using CRISPR/Cas9 to confirm the effect of the candidate gene on the pathogenesis of hydrocephalus.RESULTS: In WES, we identified a loss-of-function variant in CFAP43 that segregated with the disease. CFAP43 encoding cilia- and flagella-associated protein is preferentially expressed in the testis.Recent studies have revealed that mutations in this gene cause male infertility owing to morphologic abnormalities of sperm flagella. We knocked out mouse ortholog Cfap43 using CRISPR/Cas9 technology, resulting in Cfap43-deficient mice that exhibited a hydrocephalus phenotype with morphologic abnormality of motile cilia. CONCLUSION: Our results strongly suggest that CFAP43 is responsible for morphologic or movement abnormalities of cilia in the brain that result in NPH.
URI: http://hdl.handle.net/10069/39228
ISSN: 0028-3878
DOI: 10.1212/WNL.0000000000007505
Rights: © 2019 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology. This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivatives License 4.0 (CC BY-NC-ND), which permits downloading and sharing the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal.
Type: Journal Article
Text Version: publisher
Appears in Collections:Articles in academic journal

Citable URI : http://hdl.handle.net/10069/39228

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