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Early-onset, severe lipoatrophy in a patient with permanent neonatal diabetes mellitus secondary to a recessive mutation in the INS gene.

Pediatric diabetes - 1 Sept 2012

Rachmiel Marianna, Rubio-Cabezas Oscar, Ellard Sian, Hattersley Andrew T, Perlman Kusiel

Abstract excerpt

We describe a case of neonatal diabetes due to a homozygous mutation (c.3 G>T) at the INS gene, leading to lack of insulin expression and severe hyperglycemia from day one of life requiring permanent insulin replacement therapy. The genetic loss of endogenous insulin production likely led to lack of immune tolerance to insulin, with resultant autoantibody production against exogenous insulin and progressive...

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Source

Identifiers

PMID: 21910811
DOI: 10.1111/j.1399-5448.2011.00809.x

Genes

INS

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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Early-onset, severe lipoatrophy in a patient with permanent neonatal diabetes mellitus secondary to a recessive mutation in the INS gene.PMID 21910811Read ↗

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Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis.Semantic proximity Read ↗

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