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Article

NPHS1 gene mutations confirm congenital nephrotic syndrome in four Brazilian cases: A novel mutation is described.

Nephrology (Carlton, Vic.) - 1 Sept 2016

Guaragna Mara S, Cleto Thaís Lira, Souza Marcela Lopes, Lutaif Anna Cristina G B, de Castro Luiz Cláudio Gonçalves, Penido Maria Goretti Moreira Guimarães, Maciel-Guerra Andréa T, Belangero Vera M S, Guerra-Junior Gil, De Mello Maricilda P

Abstract excerpt

AIM: Autosomal recessive mutations in NPHS1 gene are a common cause of congenital nephrotic syndrome (CNS). The disorder is characterized by massive proteinuria that manifests in utero or in the neonatal period during the first 3 months of life. NPHS1 encodes nephrin, a member of the immunoglobulin family of cell adhesion molecules and the main protein expressed at the renal slit diaphragm. Currently, there are...

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Source

Identifiers

PMID: 26560236
DOI: 10.1111/nep.12667

Genes

NPHS1

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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