Whole exome sequencing reveals two novel mutations in GREB1L in two Chinese families with renal agenesis

Learning points for cliniciansTo date, only three GREB1L mutation cases linked to renal agenesis (RA) have been reported in Asia.In this study, we found the first Asian families of bilateral RA with deafness and unilateral RA with uterine abnormalities associated with GREB1L heterozygous mutations (NM_001142966.2:c.3635del: p. Pro1212Hisfs à 21and c.5647A>C: p. Ser1883Arg), respectively.The findings will expand the mutation spectrum of GREB1L and increase the accuracy of prenatal counseling in future pregnancies.