Identification of HOXD4 mutations in spinal extradural arachnoid cyst

Yoji Ogura; Noriko Miyake; Ikuyo Kou; Aritoshi Iida; Masahiro Nakajima; Kazuki Takeda; Shunsuke Fujibayashi; Masaaki Shiina; Eijiro Okada; Yoshiaki Toyama; Akio Iwanami; Ken Ishii; Kazuhiro Ogata; Hiroshi Asahara; Naomichi Matsumoto; Masaya Nakamura; Morio Matsumoto; Shiro Ikegawa

doi:10.1371/journal.pone.0142126

Identification of HOXD4 mutations in spinal extradural arachnoid cyst

Yoji Ogura, Noriko Miyake, Ikuyo Kou, Aritoshi Iida, Masahiro Nakajima, Kazuki Takeda, Shunsuke Fujibayashi, Masaaki Shiina, Eijiro Okada, Yoshiaki Toyama, Akio Iwanami, Ken Ishii, Kazuhiro Ogata, Hiroshi Asahara, Naomichi Matsumoto, Masaya Nakamura, Morio Matsumoto, Shiro Ikegawa

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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.

Original language	English
Article number	e0142126
Journal	PloS one
Volume	10
Issue number	11
DOIs	https://doi.org/10.1371/journal.pone.0142126
Publication status	Published - 2015 Nov 6

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Ogura, Y., Miyake, N., Kou, I., Iida, A., Nakajima, M., Takeda, K., Fujibayashi, S., Shiina, M., Okada, E., Toyama, Y., Iwanami, A., Ishii, K., Ogata, K., Asahara, H., Matsumoto, N., Nakamura, M., Matsumoto, M., & Ikegawa, S. (2015). Identification of HOXD4 mutations in spinal extradural arachnoid cyst. PloS one, 10(11), Article e0142126. https://doi.org/10.1371/journal.pone.0142126

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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.",

author = "Yoji Ogura and Noriko Miyake and Ikuyo Kou and Aritoshi Iida and Masahiro Nakajima and Kazuki Takeda and Shunsuke Fujibayashi and Masaaki Shiina and Eijiro Okada and Yoshiaki Toyama and Akio Iwanami and Ken Ishii and Kazuhiro Ogata and Hiroshi Asahara and Naomichi Matsumoto and Masaya Nakamura and Morio Matsumoto and Shiro Ikegawa",

note = "Funding Information: We are grateful to the individuals who participated in this study. We thank T. Isono, T. Kusadokoro, Y. Takanashi, and S. Tominaga for technical assistance. We also thank N. Atsumi for checking English. This study is supported by research grants from Japan Agency For Medical Research and Development (AMED) (contract No. 14525125). Publisher Copyright: {\textcopyright} 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.",

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AU - Takeda, Kazuki

AU - Fujibayashi, Shunsuke

AU - Shiina, Masaaki

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AU - Toyama, Yoshiaki

AU - Iwanami, Akio

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AU - Ogata, Kazuhiro

AU - Asahara, Hiroshi

AU - Matsumoto, Naomichi

AU - Nakamura, Masaya

AU - Matsumoto, Morio

AU - Ikegawa, Shiro

N1 - Funding Information: We are grateful to the individuals who participated in this study. We thank T. Isono, T. Kusadokoro, Y. Takanashi, and S. Tominaga for technical assistance. We also thank N. Atsumi for checking English. This study is supported by research grants from Japan Agency For Medical Research and Development (AMED) (contract No. 14525125). Publisher Copyright: © 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.

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Identification of HOXD4 mutations in spinal extradural arachnoid cyst

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