Identification of HOXD4 Mutations in Spinal Extradural Arachnoid Cyst

• Published in: PloS one Vol. 10; no. 11; p. e0142126
• Main Authors: Ogura, Yoji, Miyake, Noriko, Kou, Ikuyo, Iida, Aritoshi, Nakajima, Masahiro, Takeda, Kazuki, Fujibayashi, Shunsuke, Shiina, Masaaki, Okada, Eijiro, Toyama, Yoshiaki, Iwanami, Akio, Ishii, Ken, Ogata, Kazuhiro, Asahara, Hiroshi, Matsumoto, Naomichi, Nakamura, Masaya, Matsumoto, Morio, Ikegawa, Shiro
• Format: Journal Article
• Language: English
• Published: United States Public Library of Science 06.11.2015; Public Library of Science (PLoS)
• Subjects: Adult; Arachnoid; Arachnoid Cysts - genetics; Biochemistry; Brain diseases; Care and treatment; Computer Simulation; Congenital diseases; Cysts; Deoxyribonucleic acid; Development and progression; DNA; DNA Mutational Analysis; Dura mater; Etiology; Exome; Female; Forkhead Transcription Factors - genetics; Gene mutation; Gene sequencing; Genes; Genomes; Haploinsufficiency; Heterozygote; Homeodomain Proteins - genetics; Humans; Laboratories; Lymphedema; Male; Medicine; Middle Aged; Mutation; Neurological complications; Patient outcomes; Spinal cord; Spinal Cord Diseases - genetics; Surgery; Transcription; University graduates; Palestinian Territories
• ISSN: 1932-6203; 1932-6203
• DOI: 10.1371/journal.pone.0142126

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.