Identification of three novel mutations in insulin receptor gene in type a insulin resistant patients

S. Riqué, C. Nogués, M. Luisa Ibáñez Mora, M.V. Marcos, J. Ferragut, A.(HVH) Carrascosa, N. Potau

Producció científica: Contribució a una revistaArticleRecercaAvaluat per experts

19 Cites (Scopus)

Resum

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.
Idioma originalEnglish
Pàgines (de-a)67-69
Nombre de pàgines3
RevistaClin. genet.
Volum57
Número1
DOIs
Estat de la publicacióPublicada - 2000

Keywords

  • Insulin receptor gene
  • Insulin resistance
  • Missense mutation
  • Splice mutation
  • Type A syndrome

Fingerprint

Navegar pels temes de recerca de 'Identification of three novel mutations in insulin receptor gene in type a insulin resistant patients'. Junts formen un fingerprint únic.

Com citar-ho