Association between chromosomal aberration of COX8C and tethered spinal cord syndrome: array-based comparative genomic hybridization analysis

This study used array-based comparative genomic hybridization (aCGH) to screen for copy number variations in children with tethered spinal cord syndrome. The researchers found non-polymorphic copy number variations 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.

• 1
  Array-based comparative genomic hybridization can be used to diagnose tethered spinal cord syndrome.
• 2
  The results may help determine the pathogenesis of tethered spinal cord syndrome and prevent occurrence of this disease.
• 3
  The COX8C gene is closely related to neural system diseases such as Parkinson’s disease, Alzheimer’s disease, and Huntington’s disease.