title: Insulin-resistant diabetes associated with partial deletion of insulin-receptor gene.
abstract: 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.
authors.affiliation: Second Department of Internal Medicine, University School of Medicine, Chiba, Japan.
authors.forename: F
authors.initials: F
authors.lastname: Shimada
authors.forename: M
authors.initials: M
authors.lastname: Taira
authors.forename: Y
authors.initials: Y
authors.lastname: Suzuki
authors.forename: N
authors.initials: N
authors.lastname: Hashimoto
authors.forename: O
authors.initials: O
authors.lastname: Nozaki
authors.forename: M
authors.initials: M
authors.lastname: Taira
authors.forename: M
authors.initials: M
authors.lastname: Tatibana
authors.forename: Y
authors.initials: Y
authors.lastname: Ebina
authors.forename: M
authors.initials: M
authors.lastname: Tawata
authors.forename: T
authors.initials: T
authors.lastname: Onaya
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000483:Alleles; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D004247:DNA / Q000032:analysis*; D003920:Diabetes Mellitus / Q000235:genetics*; D005091:Exons; D005260:Female; D006580:Genetic Carrier Screening; D005951:Glucose Tolerance Test; D006801:Humans; D007333:Insulin Resistance / Q000235:genetics*; D008297:Male; D009154:Mutation; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D011972:Receptor, Insulin / Q000032:analysis / Q000235:genetics*; D011995:Recombination, Genetic
chemical_list: D004247:DNA; D011972:Receptor, Insulin