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Article

Lethal cystic kidney disease in Amish neonates associated with homozygous nonsense mutation of NPHP3.

American journal of kidney diseases : the official journal of the National Kidney Foundation - 1 May 2009

Simpson Michael A, Cross Harold E, Cross Leroy, Helmuth Mervin, Crosby Andrew H

Abstract excerpt

BACKGROUND: Nephronophthisis is a group of genetically heterogeneous autosomal recessive cystic kidney disorders with a wide spectrum of severity and age of onset. We present a clinical and genetic study of a lethal form of nephronophthisis in neonates. STUDY DESIGN: Clinical and genetic investigations of a case series. SETTING & PARTICIPANTS: 12 affected offspring born to consanguineous parents from the Old...

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Source

Identifiers

PMID: 19303681
DOI: 10.1053/j.ajkd.2008.12.026

Genes

NPHP3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Lethal cystic kidney disease in Amish neonates associated with homozygous nonsense mutation of NPHP3.PMID 19303681Read ↗

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Mutations of NPHP2 and NPHP3 in infantile nephronophthisis.Semantic proximity Read ↗

The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies.Semantic proximity Read ↗

Identification of a synonymous variant of NPHP3 causing aberrant splicing and its pathogenicity in a Chinese pedigreeSemantic proximity Read ↗

Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathySemantic proximity Read ↗

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ANKS6 Variants Underlie Polycystic Kidneys in Prenatal and Neonatal Cases.Semantic proximity Read ↗

Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis.Semantic proximity Read ↗

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