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Article

Reduced mRNA and a nonsense mutation in the insulin-receptor gene produce heritable severe insulin resistance.

American journal of human genetics - 1 May 1992

Longo N, Langley S D, Griffin L D, Elsas L J

Abstract excerpt

Leprechaunism is an autosomal recessive syndrome of severe insulin resistance and is characterized by intrauterine growth restriction, acanthosis nigricans, hirsutism, and loss of glucose homeostasis. Here we report a new female patient of Hispanic and Afro-American descent whose fibroblasts and lymphoblasts had markedly impaired insulin binding (less than 10% of that in controls). Insulin binding to lymphoblasts...

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Identifiers

PMID: 1315125
PMCID: PMC1682601

Genes

EGF

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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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Reduced mRNA and a nonsense mutation in the insulin-receptor gene produce heritable severe insulin resistance.PMID 1315125Read ↗

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Insulin resistance and diabetes due to different mutations in the tyrosine kinase domain of both insulin receptor gene alleles.Semantic proximity Read ↗

Insulin resistance associated with decreased levels of insulin-receptor messenger ribonucleic acid: evidence of a de novo mutation in the maternal allele.Semantic proximity Read ↗

Prenatal analysis of the insulin receptor gene in a family with leprechaunism.Semantic proximity Read ↗

An in-frame insertion in exon 3 and a nonsense mutation in exon 2 of the insulin receptor gene associated with severe insulin resistance in a patient with Rabson-Mendenhall syndrome.Semantic proximity Read ↗

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Deletion of 3 basepairs resulting in the loss of lysine-121 in the insulin receptor alpha-subunit in a patient with leprechaunism: binding, phosphorylation, and biological activity.Semantic proximity Read ↗

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