Renal hypodysplasia/aplasia 3 caused by a rare variant of GREB1L with incomplete penetrance in a Chinese family

Renal agenesis (RA) represents the most severe form of congenital anomalies of the kidney and urinary tract (CAKUT). Bilateral renal agenesis (BRA) is almost invariably fatal at birth and has high genetic heterogeneity. Here we report on a Chinese family with two pregnancies affected by a prenatal form of BRA. Trio-WES was conducted to explore the underlying genetic cause and identified a novel nonsense variant (c.2621G>A: p. Trp874Ter) in the GREB1L gene. Based on previous research, pathogenic mutations in GREB1L can cause renal hypodysplasia/aplasia-3 (RHDA3) with autosomal dominant inheritance.

Source: Urology - February 1, 2024 Category: Urology & Nephrology Authors: Lihong Fan, Guosong Shen, Mingsong Liu, Yufei Liang, Juan Yao, Zhongying Ding, Zhi Li, Xiangping Feng, Jinghui Zhang, Xueping Shen Source Type: research