title: A novel FOXC2 mutation in spinal extradural arachnoid cyst.
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.349C>T (p.Q117*).
authors.affiliation: Laboratory of Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan; Department of Orthopaedic Surgery, School of Medicine, Keio University, Tokyo, Japan.
authors.forename: Yoji
authors.initials: Y
authors.lastname: Ogura
authors.affiliation: Department of Orthopaedic Surgery, Kyoto University , Kyoto, Japan.
authors.forename: Shunsuke
authors.initials: S
authors.lastname: Fujibayashi
authors.affiliation: Laboratory of Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences , Tokyo, Japan.
authors.forename: Aritoshi
authors.initials: A
authors.lastname: Iida
authors.affiliation: Laboratory of Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences , Tokyo, Japan.
authors.forename: Ikuyo
authors.initials: I
authors.lastname: Kou
authors.affiliation: Laboratory of Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences , Tokyo, Japan.
authors.forename: Masahiro
authors.initials: M
authors.lastname: Nakajima
authors.affiliation: Department of Orthopaedic Surgery, Saiseikai Central Hospital , Tokyo, Japan.
authors.forename: Eijiro
authors.initials: E
authors.lastname: Okada
authors.affiliation: Department of Orthopaedic Surgery, School of Medicine, Keio University , Tokyo, Japan.
authors.forename: Yoshiaki
authors.initials: Y
authors.lastname: Toyama
authors.affiliation: Department of Orthopaedic Surgery, School of Medicine, Keio University , Tokyo, Japan.
authors.forename: Akio
authors.initials: A
authors.lastname: Iwanami
authors.affiliation: Department of Orthopaedic Surgery, School of Medicine, Keio University , Tokyo, Japan.
authors.forename: Ken
authors.initials: K
authors.lastname: Ishii
authors.affiliation: Department of Orthopaedic Surgery, School of Medicine, Keio University , Tokyo, Japan.
authors.forename: Masaya
authors.initials: M
authors.lastname: Nakamura
authors.affiliation: Department of Orthopaedic Surgery, School of Medicine, Keio University , Tokyo, Japan.
authors.forename: Morio
authors.initials: M
authors.lastname: Matsumoto
authors.affiliation: Laboratory of Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences , Tokyo, Japan.
authors.forename: Shiro
authors.initials: S
authors.lastname: Ikegawa