Shimada F, Taira M, Suzuki Y, Hashimoto N, Nozaki O, Taira M, Tatibana M, Ebina Y, Tawata M, Onaya T
Second Department of Internal Medicine, University School of Medicine, Chiba, Japan.
Lancet. 1990 May 19;335(8699):1179-81. doi: 10.1016/0140-6736(90)92695-e.
The insulin-receptor genes from a 16-year-old girl with type A insulin resistance, who presented with fasting hyperinsulinaemia, acanthosis nigricans, and reduced insulin binding, and from her family were examined. One allele of her insulin-receptor gene inherited from her mother contained a 1.2 kb deletion arising from a recombination between two Alu elements. The deletion removed the 14th exon in the beta subunit and altered the reading frame, to produce a stop codon after aminoacid 867. Pedigree analysis indicated that this mutation alone will not cause diabetes, and the proband is possibly a compound heterozygote. 4 other members of her family were heterozygous for the same mutation; all 4 had a decrease in insulin binding and slight impairment of glucose tolerance. Perhaps the same mutation is an underlying feature of some cases of non-insulin-dependent diabetes mellitus.
