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Article

Homozygosity for a null allele of the insulin receptor gene in a patient with leprechaunism.

Human mutation - 1 Jan 1995

Hone J, Accili D, Psiachou H, Alghband-Zadeh J, Mitton S, Wertheimer E, Sinclair L, Taylor S I

Abstract excerpt

Mutations in the insulin receptor gene can cause genetic syndromes associated with extreme insulin resistance. We have investigated a patient with leprechaunism (leprechaun/Qatar-1) born of a consanguineous marriage. Postnatally, the proband had episodes of severe hypoglycemia and hyperinsulinernia, with blood glucose levels ranging from 0.9 to 9.9 mmol/L. The C peptide concentration with 1880 nmol/L, and the...

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Source

Identifiers

PMID: 7550226
DOI: 10.1002/humu.1380060105

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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