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Article

Permanent neonatal diabetes mellitus caused by a novel mutation in the KCNJ11 gene.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Mar 2014

Doneray Hakan, Houghton Jayne, Tekgunduz Kadir Serafettin, Balkir Ferat, Caner Ibrahim

Abstract excerpt

Mutations in the KCNJ11 gene are responsible for the majority of permanent neonatal diabetes mellitus (PNDM) cases. Some mutations in this gene, including p.Q52R, are associated with the developmental delay, epilepsy, neonatal diabetes (DEND) syndrome. We describe a patient with PNDM who had no neurological finding although she was determined to have a novel mutation (p.Q52L) in the same residue of the KCNJ11 as...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Potassium Channels, Inwardly Rectifying

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Source

Identifiers

PMID: 24150202
DOI: 10.1515/jpem-2013-0068

Genes

KCNJ11

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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