Heterozygous variants of uncertain significance in <i>NPHS1</i> and <i>CRB2</i> in a newborn with congenital nephrotic syndrome of the Finnish type and multiple fetal anomalies: a case report.

ABSTRACT:

Background

Congenital nephrotic syndrome of the Finnish type (CNF) is an autosomal recessive disorder resulting from mutations in the NPHS1 gene, which encodes nephrin, an essential protein in the podocyte slit diaphragm. Pathogenic mutations of NPHS1 cause substantial proteinuria detectable at birth. Variants of uncertain significance (VUS) are recognized mutations, but their effects on health are not yet understood. This uncertainty makes it challenging to identify specific types of VUS that may contribute to disease development. The association of CNF with NPHS1 VUS remains unclear.

Case description

We describe the salient features of a newborn with CNF and multiple fetal anomalies based on clinical risk factors discovered by ultrasound (US) and X-ray

SUBMITTER: Zafar F 

PROVIDER: S-EPMC12319619 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature