title: Association between chromosomal aberration of COX8C and tethered spinal cord syndrome: array-based comparative genomic hybridization analysis.
abstract: Copy number variations have been found in patients with neural tube abnormalities. In this study, we performed genome-wide screening using high-resolution array-based comparative genomic hybridization in three children with tethered spinal cord syndrome and two healthy parents. Of eight copy number variations, four were non-polymorphic. These non-polymorphic copy number variations were associated with Angelman and Prader-Willi syndromes, and microcephaly. Gene function enrichment analysis revealed that COX8C, a gene associated with metabolic disorders of the nervous system, was located in the copy number variation region of Patient 1. Our results indicate that array-based comparative genomic hybridization can be used to diagnose tethered spinal cord syndrome. Our results may help determine the pathogenesis of tethered spinal cord syndrome and prevent occurrence of this disease.
authors.affiliation: Department of Neurosurgery, Chinese PLA General Hospital, Beijing, China.
authors.forename: Qiu-Jiong
authors.initials: QJ
authors.lastname: Zhao
authors.affiliation: Department of Neurosurgery, Chinese PLA General Hospital, Beijing, China.
authors.forename: Shao-Cong
authors.initials: SC
authors.lastname: Bai
authors.affiliation: Department of Neurosurgery, Chinese PLA General Hospital, Beijing, China.
authors.forename: Cheng
authors.initials: C
authors.lastname: Cheng
authors.affiliation: Department of Neurosurgery, Chinese PLA General Hospital, Beijing, China.
authors.forename: Ben-Zhang
authors.initials: BZ
authors.lastname: Tao
authors.affiliation: Department of Neurosurgery, Chinese PLA General Hospital, Beijing, China.
authors.forename: Le-Kai
authors.initials: LK
authors.lastname: Wang
authors.affiliation: Department of Neurosurgery, Chinese PLA General Hospital, Beijing, China.
authors.forename: Shuang
authors.initials: S
authors.lastname: Liang
authors.affiliation: Department of Neurology, Chinese PLA General Hospital, Beijing, China.
authors.forename: Ling
authors.initials: L
authors.lastname: Yin
authors.affiliation: iGeneTech Biotechnology Co., Ltd., Beijing, China.
authors.forename: Xing-Yi
authors.identifier: 0000-0002-3736-2203
authors.initials: XY
authors.lastname: Hang
authors.affiliation: Department of Neurosurgery, Chinese PLA General Hospital, Beijing, China.
authors.forename: Ai-Jia
authors.identifier: 0000-0002-4895-5442
authors.initials: AJ
authors.lastname: Shang
keywords: COX8C; comparative genomic hybridization; copy number variations; database of DECIPHER; database of genomic variants; gene function enrichment analysis; nerve regeneration; neural regeneration; neural tube defects; tethered spinal cord syndrome