FOXC2 Mutations in Familial and Sporadic Spinal Extradural Arachnoid Cyst

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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Main Authors: Ogura, Yoji, Yabuki, Shoji, Iida, Aritoshi, Kou, Ikuyo, Nakajima, Masahiro, Kano, Hiroki, Shiina, Masaaki, Kikuchi, Shinichi, Toyama, Yoshiaki, Ogata, Kazuhiro, Nakamura, Masaya, Matsumoto, Morio, Ikegawa, Shiro
Format: Online
Language:English
Published: Public Library of Science 2013
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3838418/
id pubmed-3838418
recordtype oai_dc
spelling pubmed-38384182013-11-25 FOXC2 Mutations in Familial and Sporadic Spinal Extradural Arachnoid Cyst Ogura, Yoji Yabuki, Shoji Iida, Aritoshi Kou, Ikuyo Nakajima, Masahiro Kano, Hiroki Shiina, Masaaki Kikuchi, Shinichi Toyama, Yoshiaki Ogata, Kazuhiro Nakamura, Masaya Matsumoto, Morio Ikegawa, Shiro Research Article 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. Public Library of Science 2013-11-22 /pmc/articles/PMC3838418/ /pubmed/24278289 http://dx.doi.org/10.1371/journal.pone.0080548 Text en © 2013 Ogura et al http://creativecommons.org/licenses/by/4.0/ 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 properly credited.
repository_type Open Access Journal
institution_category Foreign Institution
institution US National Center for Biotechnology Information
building NCBI PubMed
collection Online Access
language English
format Online
author Ogura, Yoji
Yabuki, Shoji
Iida, Aritoshi
Kou, Ikuyo
Nakajima, Masahiro
Kano, Hiroki
Shiina, Masaaki
Kikuchi, Shinichi
Toyama, Yoshiaki
Ogata, Kazuhiro
Nakamura, Masaya
Matsumoto, Morio
Ikegawa, Shiro
spellingShingle Ogura, Yoji
Yabuki, Shoji
Iida, Aritoshi
Kou, Ikuyo
Nakajima, Masahiro
Kano, Hiroki
Shiina, Masaaki
Kikuchi, Shinichi
Toyama, Yoshiaki
Ogata, Kazuhiro
Nakamura, Masaya
Matsumoto, Morio
Ikegawa, Shiro
FOXC2 Mutations in Familial and Sporadic Spinal Extradural Arachnoid Cyst
author_facet Ogura, Yoji
Yabuki, Shoji
Iida, Aritoshi
Kou, Ikuyo
Nakajima, Masahiro
Kano, Hiroki
Shiina, Masaaki
Kikuchi, Shinichi
Toyama, Yoshiaki
Ogata, Kazuhiro
Nakamura, Masaya
Matsumoto, Morio
Ikegawa, Shiro
author_sort Ogura, Yoji
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
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.
publisher Public Library of Science
publishDate 2013
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3838418/
_version_ 1612030150148358144

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