A novel FOXC2 mutation in spinal extradural arachnoid cyst
Identifieur interne : 002217 ( Main/Merge ); précédent : 002216; suivant : 002218A novel FOXC2 mutation in spinal extradural arachnoid cyst
Auteurs : Yoji Ogura [Japon] ; Shunsuke Fujibayashi [Japon] ; Aritoshi Iida [Japon] ; Ikuyo Kou [Japon] ; Masahiro Nakajima [Japon] ; Eijiro Okada [Japon] ; Yoshiaki Toyama [Japon] ; Akio Iwanami [Japon] ; Ken Ishii [Japon] ; Masaya Nakamura [Japon] ; Morio Matsumoto [Japon] ; Shiro Ikegawa [Japon]Source :
- Human Genome Variation [ 2054-345X ] ; 2015.
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
Url:
DOI: 10.1038/hgv.2015.32
PubMed: 27081541
PubMed Central: 4785541
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PMC:4785541Le document en format XML
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<front><div type="abstract" xml:lang="en"><p>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 <italic>FOXC2</italic>
mutations in two SEDAC families. The <italic>FOXC2</italic>
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 <italic>FOXC2</italic>
, c.349C>T (p.Q117*).</p>
</div>
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