A novel FOXC2 mutation in spinal extradural arachnoid cyst

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 syndr...

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Detalles Bibliográficos
Autores principales: Ogura, Yoji, Fujibayashi, Shunsuke, Iida, Aritoshi, Kou, Ikuyo, Nakajima, Masahiro, Okada, Eijiro, Toyama, Yoshiaki, Iwanami, Akio, Ishii, Ken, Nakamura, Masaya, Matsumoto, Morio, Ikegawa, Shiro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2015
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785541/
https://www.ncbi.nlm.nih.gov/pubmed/27081541
http://dx.doi.org/10.1038/hgv.2015.32
Descripción
Sumario: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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