Novel loss of function variants in FRAS1 AND FREM2 underlie renal agenesis in consanguineous families.

CONCLUSION: We describe consanguineous families with clinical features of antenatal oligohydramnios and bilateral renal agenesis, in whom we have identified novel pathogenic variants in FRAS1 and FREM2. These finding highlights the association between mutations in FRAS1 and FREM2 and antenatal/perinatal death.
PMID: 32643034 [PubMed - as supplied by publisher]

Source: Journal of Nephrology - July 7, 2020 Category: Urology & Nephrology Authors: Al-Hamed MH, Sayer JA, Alsahan N, Tulbah M, Kurdi W, Ambusaidi Q, Ali W, Imtiaz F Tags: J Nephrol Source Type: research