Ontology highlight
ABSTRACT:
SUBMITTER: Ogura Y
PROVIDER: S-EPMC4785541 | biostudies-literature | 2015
REPOSITORIES: biostudies-literature
Ogura Yoji Y Fujibayashi Shunsuke S Iida Aritoshi A Kou Ikuyo I Nakajima Masahiro M Okada Eijiro E Toyama Yoshiaki Y Iwanami Akio A Ishii Ken K Nakamura Masaya M Matsumoto Morio M Ikegawa Shiro S
Human genome variation 20150917
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 ...[more]