Papillorenal综合征与PAX2基因

Papillorenal syndrome and the PAX2 gene

Papillorenal综合征(papillorenal syndrome),又称肾缺损综合征(renal coloboma syndrome),是一种以肾和眼先天发育不全为典型特征的常染色体显性遗传病,绝大多数患者在儿童期发病.部分Papillorenal综合征与PAX2基因突变有关.PAX2基因是转录因子家族配对盒基因(paired box)家族的一员,位于染色体10q23-24,编码PAX2蛋白亚型c型(PAX2 isoform c),调控下游基因的表达,在肾、眼等器官的发育过程中发挥重要作用.PAX2基因突变导致编码产物结构和功能异常,引起下游基因表达异常,导致肾、眼等相关器官发育不良.目前已报道80多个PAX2基因突变,可引起不同的临床表型.PAX2基因突变分析有助于Papillorenal综合征的诊断、监测和治疗.

Papillorenal syndrome,also known as renal coloboma syndrome,is an autosomal donunant inherited condition typically featured by congenital aplasia of kidneys and eyes,most of which occur in childhood.Studies have revealed that a mutation in PAX2 gene is the critical etiology of Papillorenal Syndrome.The PAX2 gene is located at chromosome 10q23-24,encoding PAX2 protein isoform c,which belongs to the transcription factors family paired box family that regulate downstream gene expression and play an important role in development of organs such as the kidney and the eye.Mutations in PAX2 result in structural and functional abnormality of PAX2 protein isoform c,which leads to the dysplasia of the related organs.More than 80 mutations in the PAX2 gene have been currently reported,causing various clinical phenotypes.The mutational analysis of the PAX2 gene would be of help to direct the diagnosis,monitoring and treatment of papillorenal syndrome.This review summarizes the research progress of papillorenal syndrome and mutations in the PAX2 gene.