Identification of HOXD4 Mutations in Spinal Extradural Arachnoid Cyst.
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 n...
| Main Authors: | , , , , , , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Public Library of Science (PLoS)
2015-01-01
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| Series: | PLoS ONE |
| Online Access: | http://europepmc.org/articles/PMC4636324?pdf=render |
| _version_ | 1811273274510802944 |
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| author | 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 |
| author_facet | 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 |
| author_sort | Yoji Ogura |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-12T22:56:12Z |
| format | Article |
| id | doaj.art-cf06adb40c0d40fcab8b23c2f3393f31 |
| institution | Directory Open Access Journal |
| issn | 1932-6203 |
| language | English |
| last_indexed | 2024-04-12T22:56:12Z |
| publishDate | 2015-01-01 |
| publisher | Public Library of Science (PLoS) |
| record_format | Article |
| series | PLoS ONE |
| spelling | doaj.art-cf06adb40c0d40fcab8b23c2f3393f312022-12-22T03:13:12ZengPublic Library of Science (PLoS)PLoS ONE1932-62032015-01-011011e014212610.1371/journal.pone.0142126Identification of HOXD4 Mutations in Spinal Extradural Arachnoid Cyst.Yoji OguraNoriko MiyakeIkuyo KouAritoshi IidaMasahiro NakajimaKazuki TakedaShunsuke FujibayashiMasaaki ShiinaEijiro OkadaYoshiaki ToyamaAkio IwanamiKen IshiiKazuhiro OgataHiroshi AsaharaNaomichi MatsumotoMasaya NakamuraMorio MatsumotoShiro IkegawaSpinal 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.http://europepmc.org/articles/PMC4636324?pdf=render |
| spellingShingle | 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 Identification of HOXD4 Mutations in Spinal Extradural Arachnoid Cyst. PLoS ONE |
| title | Identification of HOXD4 Mutations in Spinal Extradural Arachnoid Cyst. |
| title_full | Identification of HOXD4 Mutations in Spinal Extradural Arachnoid Cyst. |
| title_fullStr | Identification of HOXD4 Mutations in Spinal Extradural Arachnoid Cyst. |
| title_full_unstemmed | Identification of HOXD4 Mutations in Spinal Extradural Arachnoid Cyst. |
| title_short | Identification of HOXD4 Mutations in Spinal Extradural Arachnoid Cyst. |
| title_sort | identification of hoxd4 mutations in spinal extradural arachnoid cyst |
| url | http://europepmc.org/articles/PMC4636324?pdf=render |
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