Progress of PBX1 gene abnormalities causing congenital renal anomaly / 国际儿科学杂志

ABSTRACT

Congenital anomalies of the kidneys and urinary tracts（CAKUT）include a wide range of structural malformations resulting from defects in the morphogenesis of the kidney and the urinary tract. Congenital renal anomaly is common in CAKUT. The pathogenesis of congenital renal anomaly is considered to be multi-factor，involving maternal or external environment，and heredity. With the continuous progress of molecular diagnosis technology，genetic factors have attracted more and more attention. The PBX1 gene was initially discovered by the formation of an E2A-PBX1 fusion gene from a t（1；19）（q23；p13.3）chromosome translocation，which results in pre-B-cell lymphoblastic leukemia.PBX1 gene mutation can cause congenital renal and urogenital malformation syndromes with or without hearing loss，ear abnormalities，and developmental delay. This review deepens the understanding of the role of genes in regulating kidney development by describing the embryonic basis of kidney development，the structure and function of the PBX1 gene，and the pathogenesis of renal anomalies caused by mutations. Further，it summarizes the phenotype and genotype of the PBX1 gene，in order to promote the diagnosis，treatment，and determination progression of congenital renal anomaly.