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Article

MAGI2 Mutations Cause Congenital Nephrotic Syndrome.

Journal of the American Society of Nephrology : JASN - 1 May 2017

Bierzynska Agnieszka, Soderquest Katrina, Dean Philip, Colby Elizabeth, Rollason Ruth, Jones Caroline, Inward Carol D, McCarthy Hugh J, Simpson Michael A, Lord Graham M, Williams Maggie, Welsh Gavin I, Koziell Ania B, Saleem Moin A

Abstract excerpt

Steroid-resistant nephrotic syndrome (SRNS), a heterogeneous disorder of the renal glomerular filtration barrier, results in impairment of glomerular permselectivity. Inheritance of genetic SRNS may be autosomal dominant or recessive, with a subset of autosomal recessive SRNS presenting as congenital nephrotic syndrome (CNS). Mutations in 53 genes are associated with human SRNS, but these mutations explain ≤30%...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 27932480
DOI: 10.1681/ASN.2016040387
PMCID: PMC5407720

Genes

MAGI2

Provenance

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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