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Article

KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes.

Human mutation - 1 Jan 2005

Massa Ornella, Iafusco Dario, D'Amato Elena, Gloyn Anna L, Hattersley Andrew T, Pasquino Bruno, Tonini Giorgio, Dammacco Francesco, Zanette Giorgio, Meschi Franco, Porzio Ottavia, Bottazzo Gianfranco, Crinó Antonino, Lorini Renata, Cerutti Franco, Vanelli Maurizio, Barbetti Fabrizio

Abstract excerpt

Permanent neonatal diabetes mellitus (PNDM) is a rare condition characterized by severe hyperglycemia constantly requiring insulin treatment from its onset. Complete deficiency of glucokinase (GCK) can cause PNDM; however, the genetic etiology is unknown in most PNDM patients. Recently, heterozygous activating mutations of KCNJ11, encoding Kir6.2, the pore forming subunit of the ATP-dependent potassium (K(ATP))...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Share to Potassium Channels, Inwardly Rectifying

Source

Identifiers

PMID: 15580558
DOI: 10.1002/humu.20124

Genes

KCNJ11
GCK

Variants

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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KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes.PMID 15580558Read ↗

Variable phenotypic spectrum of diabetes mellitus in a family carrying a novel KCNJ11 gene mutation.Semantic proximity Read ↗

Kir6.2 Mutations Are a Common Cause of Permanent Neonatal Diabetes in a Large Cohort of French PatientsSemantic proximity Read ↗

Heterozygous missense mutations in the insulin gene are linked to permanent diabetes appearing in the neonatal period or in early infancy: a report from the French ND (Neonatal Diabetes) Study Group.Semantic proximity Read ↗

The C42R Mutation in the Kir6.2 (KCNJ11) Gene as a Cause of Transient Neonatal Diabetes, Childhood Diabetes, or Later-Onset, Apparently Type 2 Diabetes MellitusSemantic proximity Read ↗

Relapsing diabetes can result from moderately activating mutations in KCNJ11.Semantic proximity Read ↗

Mutations in KCNJ11, which encodes Kir6.2, are a common cause of diabetes diagnosed in the first 6 months of life, with the phenotype determined by genotype.Semantic proximity Read ↗

Permanent Neonatal Diabetes due to Mutations in <i>KCNJ11</i> Encoding Kir6.2Semantic proximity Read ↗

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KCNJ11 activating mutations cause both transient and permanent neonatal diabetes mellitus in Cypriot patients.Semantic proximity Read ↗

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