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

作　　者：Qiu-jiong Zhao Shao-cong Bai Cheng Cheng Ben-zhang Tao Le-kai Wang Shuang Liang Ling Yin Xing-yi Hang Ai-jia Shang 

机构地区：[1]Department of Neurosurgery, Chinese PLA General Hospital, Beijing, China [2]iGeneTech Biotechnology Co., Ltd., Beijing, China [3]Department of Neurology, Chinese PLA General Hospital, Beijing, China

出　　处：《Neural Regeneration Research》2016年第8期1333-1338,共6页中国神经再生研究（英文版）

摘　　要：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 COX8 C,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.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 COX8 C,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.

关 键 词：nerve regeneration neural tube defects tethered spinal cord syndrome comparative genomic hybridization COX8C gene function enrichment analysis database of genomic variants database of DECIPHER copy number variations neural regeneration 

分 类 号：R744[医药卫生—神经病学与精神病学]