FOXC2 mutations in familial and sporadic 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. Most cases are sporadic; however, three familial SEDAC cases have been reported, suggesting genetic etiological factors. All familial cases are associated wi...
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doaj-9bf7e094034241d787852fa2d887e09b2020-11-24T21:54:40ZengPublic Library of Science (PLoS)PLoS ONE1932-62032013-01-01811e8054810.1371/journal.pone.0080548FOXC2 mutations in familial and sporadic spinal extradural arachnoid cyst.Yoji OguraShoji YabukiAritoshi IidaIkuyo KouMasahiro NakajimaHiroki KanoMasaaki ShiinaShinichi KikuchiYoshiaki ToyamaKazuhiro OgataMasaya 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. Most cases are sporadic; however, three familial SEDAC cases have been reported, suggesting genetic etiological factors. All familial cases are associated with lymphedema-distichiasis syndrome (LDS), whose causal gene is FOXC2. However, FOXC2 mutation analysis has been performed in only 1 family, and no mutation analysis has been performed on sporadic (non-familial) SEDACs. We recruited 17 SEDAC subjects consisting of 2 familial and 7 sporadic cases and examined FOXC2 mutations by Sanger sequencing and structural abnormalities by TaqMan copy number assay. We identified 2 novel FOXC2 mutations in 2 familial cases. Incomplete LDS penetrance was noted in both families. Four subjects presented with SEDACs only. Thus, SEDAC caused by the heterozygous FOXC2 loss-of-function mutation should be considered a feature of LDS, although it often manifests as the sole symptom. Seven sporadic SEDAC subjects had no FOXC2 mutations, no symptoms of LDS, and showed differing clinical characteristics from those who had FOXC2 mutations, suggesting that other gene(s) besides FOXC2 are likely to be involved in SEDAC.http://europepmc.org/articles/PMC3838418?pdf=render |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Yoji Ogura Shoji Yabuki Aritoshi Iida Ikuyo Kou Masahiro Nakajima Hiroki Kano Masaaki Shiina Shinichi Kikuchi Yoshiaki Toyama Kazuhiro Ogata Masaya Nakamura Morio Matsumoto Shiro Ikegawa |
spellingShingle |
Yoji Ogura Shoji Yabuki Aritoshi Iida Ikuyo Kou Masahiro Nakajima Hiroki Kano Masaaki Shiina Shinichi Kikuchi Yoshiaki Toyama Kazuhiro Ogata Masaya Nakamura Morio Matsumoto Shiro Ikegawa FOXC2 mutations in familial and sporadic spinal extradural arachnoid cyst. PLoS ONE |
author_facet |
Yoji Ogura Shoji Yabuki Aritoshi Iida Ikuyo Kou Masahiro Nakajima Hiroki Kano Masaaki Shiina Shinichi Kikuchi Yoshiaki Toyama Kazuhiro Ogata Masaya Nakamura Morio Matsumoto Shiro Ikegawa |
author_sort |
Yoji Ogura |
title |
FOXC2 mutations in familial and sporadic spinal extradural arachnoid cyst. |
title_short |
FOXC2 mutations in familial and sporadic spinal extradural arachnoid cyst. |
title_full |
FOXC2 mutations in familial and sporadic spinal extradural arachnoid cyst. |
title_fullStr |
FOXC2 mutations in familial and sporadic spinal extradural arachnoid cyst. |
title_full_unstemmed |
FOXC2 mutations in familial and sporadic spinal extradural arachnoid cyst. |
title_sort |
foxc2 mutations in familial and sporadic spinal extradural arachnoid cyst. |
publisher |
Public Library of Science (PLoS) |
series |
PLoS ONE |
issn |
1932-6203 |
publishDate |
2013-01-01 |
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. Most cases are sporadic; however, three familial SEDAC cases have been reported, suggesting genetic etiological factors. All familial cases are associated with lymphedema-distichiasis syndrome (LDS), whose causal gene is FOXC2. However, FOXC2 mutation analysis has been performed in only 1 family, and no mutation analysis has been performed on sporadic (non-familial) SEDACs. We recruited 17 SEDAC subjects consisting of 2 familial and 7 sporadic cases and examined FOXC2 mutations by Sanger sequencing and structural abnormalities by TaqMan copy number assay. We identified 2 novel FOXC2 mutations in 2 familial cases. Incomplete LDS penetrance was noted in both families. Four subjects presented with SEDACs only. Thus, SEDAC caused by the heterozygous FOXC2 loss-of-function mutation should be considered a feature of LDS, although it often manifests as the sole symptom. Seven sporadic SEDAC subjects had no FOXC2 mutations, no symptoms of LDS, and showed differing clinical characteristics from those who had FOXC2 mutations, suggesting that other gene(s) besides FOXC2 are likely to be involved in SEDAC. |
url |
http://europepmc.org/articles/PMC3838418?pdf=render |
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