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Title: Identification of HOXD4 mutations in spinal extradural arachnoid cyst
Authors: Ogura, Yoji
Miyake, Noriko
Kou, Ikuyo
Iida, Aritoshi
Nakajima, Masahiro
Takeda, Kazuki  kyouindb  KAKEN_id
Fujibayashi, Shunsuke  kyouindb  KAKEN_id
Shiina, Masaaki
Okada, Eijiro
Toyama, Yoshiaki
Iwanami, Akio
Ishii, Ken
Ogata, Kazuhiro
Asahara, Hiroshi
Matsumoto, Naomichi
Nakamura, Masaya
Matsumoto, Morio
Ikegawa, Shiro
Author's alias: 藤林, 俊介
Issue Date: 6-Nov-2015
Publisher: Public Library of Science
Journal title: PLOS ONE
Volume: 10
Issue: 11
Thesis number: e0142126
Abstract: Spinal extradural arachnoid cyst (SEDAC) is a cyst in the spinal canal that protrudes into the epidural space from a defect in the dura mater and leads to neurological disturbances. We previously showed that familial SEDAC is caused by FOXC2 mutation; however, the causal gene of sporadic SEDAC has not been identified. To identify the causal gene of sporadic SEDAC, we performed whole exome sequencing for 12 subjects with sporadic SEDAC and identified heterozygous HOXD4 loss-of-function mutations in three subjects. HOXD4 haplo-insufficiency causes SEDAC and a transcriptional network containing HOXD4 and FOXC2 is involved in the development of the dura mater and the etiology of SEDAC.
Rights: © 2015 Ogura et al.This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
DOI(Published Version): 10.1371/journal.pone.0142126
PubMed ID: 26545093
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