A novel FOXC2 mutation in spinal extradural arachnoid cyst

Yoji Ogura, Shunsuke Fujibayashi, Aritoshi Iida, Ikuyo Kou, Masahiro Nakajima, Eijiro Okada, Yoshiaki Toyama, Akio Iwanami, Ken Ishii, Masaya Nakamura, Morio Matsumoto, Shiro Ikegawa

研究成果: Article査読

8 被引用数 (Scopus)

抄録

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.349C4T (p.Q117*).

本文言語English
論文番号15032
ジャーナルHuman Genome Variation
2
1
DOI
出版ステータスPublished - 2015

ASJC Scopus subject areas

  • 生化学
  • 分子生物学
  • 遺伝学

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