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Abstract

Spinal extradural arachnoid cyst (SEDAC) is a cyst in the spinal canal that protrudes into the epidural space from a defect in the dura mater and leads to neurological disturbances. We previously showed that familial SEDAC is caused by FOXC2 mutation; however, the causal gene of sporadic SEDAC has not been identified. To identify the causal gene of sporadic SEDAC, we performed whole exome sequencing for 12 subjects with sporadic SEDAC and identified heterozygous HOXD4 loss-of-function mutations in three subjects. HOXD4 haplo-insufficiency causes SEDAC and a transcriptional network containing HOXD4 and FOXC2 is involved in the development of the dura mater and the etiology of SEDAC.

Journal

  • PLOS ONE

    PLOS ONE 10(11), 2015-11-06

    Public Library of Science

Codes

  • NII Article ID (NAID)
    120005763410
  • Text Lang
    ENG
  • Article Type
    journal article
  • ISSN
    1932-6203
  • Data Source
    IR 
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