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

Research output: Contribution to journalArticlepeer-review

8 Citations (Scopus)

Abstract

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*).

Original languageEnglish
Article number15032
JournalHuman Genome Variation
Volume2
Issue number1
DOIs
Publication statusPublished - 2015

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Biology
  • Genetics

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