title: Prenatal analysis of the insulin receptor gene in a family with leprechaunism.
abstract: Leprechaunism is an autosomal recessive disease characterized by intrauterine and postnatal growth restriction, loss of glucose homeostasis, and severe insulin resistance. This disease is caused by a failure of function of the insulin receptor and is lethal early in life. Here we report the prenatal diagnosis of leprechaunism in one consanguineous family, Atl-1, in which two homozygous-affected siblings died with leprechaunism. The mutation in their insulin receptor impaired insulin binding and altered receptor signalling. Prenatal diagnosis could not be accomplished using insulin binding to cultured amniocytes, but was possible mutational analysis of the insulin receptor gene in DNA from amniotic cells.
authors.affiliation: Department of Pediatrics, Emory University, Atlanta, GA 30322, USA.
authors.forename: N
authors.initials: N
authors.lastname: Longo
authors.forename: S D
authors.initials: SD
authors.lastname: Langley
authors.forename: M J
authors.initials: MJ
authors.lastname: Still
authors.forename: L J
authors.initials: LJ
authors.lastname: Elsas
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics; D000649:Amniocentesis; D001483:Base Sequence; D002478:Cells, Cultured; D003241:Consanguinity; D004252:DNA Mutational Analysis; D005260:Female; D006130:Growth Disorders / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007223:Infant; D007328:Insulin / Q000378:metabolism; D008297:Male; D018598:Minisatellite Repeats; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D011247:Pregnancy; D011296:Prenatal Diagnosis; D011972:Receptor, Insulin / Q000235:genetics*
chemical_list: D007328:Insulin; D011972:Receptor, Insulin