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

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 var...

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Published in中国神经再生研究：英文版 Vol. 11; no. 8; pp. 1333 - 1338
Main Author Qiu-jiong Zhao Shao-cong Bai Cheng Cheng Ben-zhang Tao Le-kai Wang Shuang Liang Ling Yin Xing-yi Hang Ai-jia Shang
Format Journal Article
LanguageEnglish
Published 2016
Subjects
杂交分析
染色体畸变
栓系
比较基因组杂交
神经再生
神经管畸形
综合征
脊髓
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Summary: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.
Bibliography: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
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.
11-5422/R
ISSN:1673-5374