title: 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.affiliation: Department of Medical Biochemistry, Sylvius Laboratories, Leiden, The Netherlands.
authors.forename: J A
authors.initials: JA
authors.lastname: Maassen
authors.forename: D
authors.initials: D
authors.lastname: Lindhout
authors.forename: A
authors.initials: A
authors.lastname: Reuss
authors.forename: W J
authors.initials: WJ
authors.lastname: Kleijer
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis*; D001345:Autoradiography; D003241:Consanguinity; D005147:Facial Bones / Q000002:abnormalities; D005260:Female; D005317:Fetal Growth Retardation / Q000175:diagnosis*; D005947:Glucose / Q000378:metabolism; D006801:Humans; D010375:Pedigree; D010766:Phosphorylation; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D011972:Receptor, Insulin / Q000032:analysis* / Q000302:isolation & purification; D012886:Skull / Q000002:abnormalities
chemical_list: D011972:Receptor, Insulin; D005947:Glucose