The Zhang Weishe team of Xiangya Hospital first discovered the missing disease-causing gene in both kidneys

A research team led by Professor Zhang Weishe from the Department of Obstetrics and Gynecology, Xiangya Hospital of Central South University, recently published an article in the Journal of the American Society of Nephrology, the official journal of the American Society of Nephrology.

Congenital renal urinary tract malformation is a common birth defect.

Whole exome sequencing finds NTPT mutation

In this study, a couple of close relatives showed oligohydramnios for three consecutive pregnancies and had to induce labor.

They found that the two abnormal fetuses shared a 35.

Nephronectin (Nephronectin, NPNT) is very important for the development of the kidney, and the knockout of Npnt in mice often leads to the absence or hypoplasia of the kidney

The researchers overexpressed WT-NPNT and K260ter-NPNT in HEK293T cells and found that the mRNA expression level of K260ter-NPNT was significantly lower than that of the wild-type control

Npnt mutant mice show renal hypoplasia

The researchers commissioned Saiye to construct knock-in mice with Npnt-c.

All mice had a normal appearance (size, weight, and no external defects) at birth, but died on the second day after birth

Interestingly, there are some differences between the phenotypes of Npnt K260 ^*/K260* mice and Npnt ^−/− mice

Concluding remarks

This study shows that the biallelic loss-of-function NPNT mutation in the affected family is the cause of the lack of human kidneys

Original Search

Lei Dai, Jingzhi Li, Liangqun Xie, et al.