A Biallelic Frameshift Mutation in Nephronectin Causes Bilateral Renal Agenesis in Humans.

ABSTRACT:

Background

Bilateral renal agenesis (BRA) is a lethal con genital anomaly caused by the failure of normal development of both kidneys early in embryonic development. Oligohydramnios on fetal ultrasonography reveals BRA. Although the exact causes are not clear, BRA is associated with mutations in many renal development genes. However, molecular diagnostics do not pick up many clinical patients. Nephronectin (NPNT) may be a candidate protein for widening diagnosis. It is essential in kidney development, and knockout of Npnt in mice frequently leads to kidney agenesis or hypoplasia.

Methods

A consanguineous Han family experienced three cases of induced abortion in the second trimester of pregnancy, due to suspected BRA. Whole-exome sequencing (WES)-based homozygosity map

SUBMITTER: Dai L 

PROVIDER: S-EPMC8455264 | biostudies-literature | 2021 Aug

REPOSITORIES: biostudies-literature