Copy number variations and congenital anomalies of the kidney and urinary tract / 国际儿科学杂志

ABSTRACT

Copy number variations(CNV)is an important part of genomic structural variation, including deletions, insertions, duplications and complex multi-site variants of DNA.Numerous studies have shown that CNV is closely related to diseases, such as congenital metabolic disease, neuro-developmental disease, and cancers.With the development of arrays and sequencing technology, a large number of CNV have been found in patients with congenital anomalies of the kidney and urinary tract(CAKUT). CNV has been found to be an important component of the patient′s cause.This review mainly discusses the definition of CNV, the mutation mechanisms, the detection techniques and the pathogenesis of CAKUT.