Identification of three novel mutations in the insulin receptor gene in type A insulin resistant patients
Por:
Riqué S, Nogués C, Ibañez-Toda L, Marcos MV, Ferragut J, Carrascosa A and Potau N
Publicada:
1 ene 2000
Resumen:
Type A insulin resistance syndrome is characterized by the association of ovarian hyperandrogenism, acanthosis nigricans, and seven 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.
Filiaciones:
Univ Barcelona, Hormonal Lab, Hosp Materno Infantil Vall Hebron, Barcelona 08035, Spain.
Univ Autonoma Barcelona, Dept Cellular Biol, Bellaterra, Spain.
Univ Barcelona, Hosp St Joan Deu, Barcelona, Spain.
Consorci Hosp Terrassa, Terrassa, Spain.
Hosp Son Dureta, Mallorca, Spain.
Bronze
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