title: [Advances in congenital vertebral malformation caused by genomic copy number variation].
abstract: Congenital vertebral malformation (CVM) is a congenital vertebral structural deformity caused by abnormal somitogenesis during embryonic development, of which the reason lies in gene mutation or abnormal regulation of the genes that coordinate somitogenesis during embryonic period. ICVAS had proposed a new classification algorithm for CVM, which facilitated exploration for its genetic etiology. Genomic Copy Number Variation (CNV) is a kind of DNA mutation, which is important for human evolution, phenotype polymorphism and diseases. Series of advances have been made on genetic causes of CVM, especially on CVM caused by CNV. CNVs of chromosome 16p11.2, 10q24.31, 17p11.2, 20p11, 22q11.2 and a few other regions are associated with CVM, indicating that gene dosage may play important roles in the development of the spinal cord.
authors.affiliation: Beijing Key Laboratory of Genetic Study of Skeletal Deformity, Department of Orthopaedics, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China.
authors.forename: Zhenlei
authors.initials: Z
authors.lastname: Liu
authors.forename: Nan
authors.initials: N
authors.lastname: Wu
authors.forename: Zhihong
authors.initials: Z
authors.lastname: Wu
authors.forename: Yuzhi
authors.initials: Y
authors.lastname: Zuo
authors.forename: Guixing
authors.initials: G
authors.lastname: Qiu
mesh_terms: D056915:DNA Copy Number Variations; D018628:Gene Dosage; D006801:Humans; D009154:Mutation; D011110:Polymorphism, Genetic; D013131:Spine / Q000002:abnormalities*