A novel FOXC2 mutation in spinal extradural arachnoid cyst

被引：8
作者：
Yoji Ogura
Shunsuke Fujibayashi
Aritoshi Iida
Ikuyo Kou
Masahiro Nakajima
Eijiro Okada
Yoshiaki Toyama
Akio Iwanami
Ken Ishii
Masaya Nakamura
Morio Matsumoto
Shiro Ikegawa
机构：
[1] Laboratory of Bone and Joint Diseases,Department of Orthopaedic Surgery
[2] RIKEN Center for Integrative Medical Sciences,Department of Orthopaedic Surgery
[3] School of Medicine,Department of Orthopaedic Surgery
[4] Keio University,undefined
[5] Kyoto University,undefined
[6] Saiseikai Central Hospital,undefined
来源：
Human Genome Variation | / 2卷 / 1期
关键词：
D O I：
10.1038/hgv.2015.32
中图分类号：
学科分类号：
摘要：
Spinal extradural arachnoid cyst (SEDAC) is a cyst in the spinal canal, which causes spinal cord compression and subsequent neurological damage. We previously identified two FOXC2 mutations in two SEDAC families. The FOXC2 mutations have been shown to be responsible for lymphedema-distichiasis syndrome (LDS), which includes SEDAC as an occasionally associated phenotype. We encountered a non-familial patient with SEDAC associated with LDS, and identified a novel nonsense mutation in FOXC2, c.349C>T (p.Q117*).
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