title: Identification of three novel mutations in the insulin receptor gene in type A insulin resistant patients.
abstract: Type A insulin resistance syndrome is characterized by the association of ovarian hyperandrogenism, acanthosis nigricans, and severe insulin resistance. We have identified three novel mutant alleles of the insulin receptor gene in 3 patients with type A syndrome, a severe form of insulin resistance. Two of the patients were sisters (A1, A2), 1 of them was a compound heterozygote for a mutation at the 3'-splice acceptor site of intron 21 (AG-->AA), and a missense mutation Val140Leu in exon 2. Her sister was a simple heterozygote for the 3'-splice acceptor mutation. The third patient (A3) was heterozygous for the missense mutation Ala1028Val in exon 17, in the consensus sequence for ATP binding.
authors.affiliation: Laboratori Hormonal, Hospital Universitari Materno-Infantil Vall d'Hebron, Barcelona, Spain. susanna@latinmail.com
authors.forename: S
authors.initials: S
authors.lastname: Riqué
authors.forename: C
authors.initials: C
authors.lastname: Nogués
authors.forename: L
authors.initials: L
authors.lastname: Ibàñez
authors.forename: M V
authors.initials: MV
authors.lastname: Marcos
authors.forename: J
authors.initials: J
authors.lastname: Ferragut
authors.forename: A
authors.initials: A
authors.lastname: Carrascosa
authors.forename: N
authors.initials: N
authors.lastname: Potau
mesh_terms: D000293:Adolescent; D000483:Alleles; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D007328:Insulin / Q000097:blood; D007333:Insulin Resistance / Q000235:genetics*; D007438:Introns; D009154:Mutation; D010641:Phenotype; D018807:Polymorphism, Single-Stranded Conformational; D011972:Receptor, Insulin / Q000235:genetics*
chemical_list: D007328:Insulin; D011972:Receptor, Insulin