Two mutant alleles of the insulin receptor gene in a patient with extreme insulin resistance

Takashi Kadowaki, Charles L Bevins, Alessandro Cama, Kaie Ojamaa, Bernice Marcus-Samuels, Hiroko Kadowaki, Laurie Beitz, Catherine Mckeon, Simeon I. Taylor

Research output: Contribution to journalArticlepeer-review

252 Scopus citations


Insulin receptor complementary DNA has been cloned from an insulin-resistant patient with leprechaunism whose receptors exhibited multiple abnormalities in insulin binding. The patient is a compound heterozygote, having inherited two different mutant alleles of the insulin receptor gene. One allele contains a missense mutation encoding the substitution of glutamic acid for lysine at position 460 in the α subunit of the receptor. The second allele has a nonsense mutation causing premature chain termination after amino acid 671 in the α subunit, thereby deleting both the transmembrane and tyrosine kinase domains of the receptor. Interestingly, the father is heterozygous for this nonsense mutation and exhibits a moderate degree of insulin resistance. This raises the possibility that mutations in the insulin receptor gene may account for the insulin resistance in some patients with non-insulin-dependent diabetes mellitus.

Original languageEnglish (US)
Pages (from-to)787-790
Number of pages4
Issue number4853
StatePublished - 1988
Externally publishedYes

ASJC Scopus subject areas

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