FOXC2 Mutations in Familial and Sporadic Spinal Extradural Arachnoid Cyst |
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| Authors: | 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 |
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| Institution: | 1. Laboratory of Bone and Joint Diseases, Center for Integrative Medical Sciences, RIKEN, Tokyo, Japan.; 2. Department of Orthopaedic Surgery, Fukushima Medical University, Fukushima, Japan.; 3. Department of Orthopaedic Surgery, School of Medicine, Keio University, Tokyo, Japan.; 4. Department of Biochemistry, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; McGill University, Canada, |
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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. 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. |
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