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 无

作者机构：Department of Neurosurgery Chinese PLA General Hospital Beijing China iGeneTech Biotechnology Co. Ltd. Beijing China Department of Neurology Chinese PLA General Hospital Beijing China 

出 版 物：《Neural Regeneration Research》 (中国神经再生研究（英文版）)

年 卷 期：2016年第11卷第8期

页      面：1333-1338页

核心收录：

学科分类：0710[理学-生物学] 1002[医学-临床医学] 1001[医学-基础医学(可授医学、理学学位)] 100204[医学-神经病学] 10[医学] 

主　　题：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 

摘      要：Copy number variations have been found in patients with neural tube *** 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 *** eight copy number variations,four were *** non-polymorphic copy number variations were associated with Angelman and Prader-Willi syndromes,and *** 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 *** results indicate that array-based comparative genomic hybridization can be used to diagnose tethered spinal cord *** results may help determine the pathogenesis of tethered spinal cord syndrome and prevent occurrence of this disease.