Biallelic Pathogenic GFRA1 Variants Cause Autosomal Recessive Bilateral Renal Agenesis.

ABSTRACT:

Background

Congenital anomalies of the kidney and urinary tract (CAKUT) are one of the most common malformations identified in the fetal stage. Bilateral renal agenesis (BRA) represents the most severe and fatal form of CAKUT. Only three genes have been confirmed to have a causal role in humans (ITGA8, GREB1L, and FGF20).

Methods

Genome sequencing within a diagnostic setting and combined data repository analysis identified a novel gene.

Results

Two patients presented with BRA, detected during the prenatal period, without additional recognizable malformations. They had parental consanguinity and similarly affected, deceased siblings, suggesting autosomal recessive inheritance. Evaluation of homozygous regions in patient 1 identified a novel, nonsen

SUBMITTER: Arora V 

PROVIDER: S-EPMC7894660 | biostudies-literature | 2021 Jan

REPOSITORIES: biostudies-literature