Prenatal analysis of insulin receptor autophosphorylation in a family with leprechaunism.

Abstract

We describe a method for the isolation and functional characterization of insulin receptors from chorionic villi and cultured amniotic fluid cells. The functionality of these receptors is assayed by measuring the insulin-induced stimulation of autophosphorylation of the receptor beta-chain. The method is expected to allow the prenatal diagnosis of those forms of leprechaunism and related diseases which are the result of a decreased stimulation by insulin of receptor autophosphorylation. A pregnancy at risk for leprechaunism was examined and an unaffected child was correctly predicted by study of the functionality of the insulin receptor on cultured amniocytes and by echoscopic examination.

• Authors: J A Maassen, D Lindhout, A Reuss, W J Kleijer
• Journal: Prenatal diagnosis (Prenat Diagn) Vol. 10 Issue 1 Pg. 13-6 (Jan 1990) ISSN: 0197-3851 [Print] England
• PMID: 2315274 (Publication Type: Case Reports, Journal Article)

Chemical References

• Receptor, Insulin
• Glucose

Topics

• Abnormalities, Multiple (diagnosis)
• Autoradiography
• Consanguinity
• Facial Bones (abnormalities)
• Female
• Fetal Growth Retardation (diagnosis)
• Glucose (metabolism)
• Humans
• Pedigree
• Phosphorylation
• Pregnancy
• Prenatal Diagnosis (methods)
• Receptor, Insulin (analysis, isolation & purification)
• Skull (abnormalities)