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Prenatal analysis of the insulin receptor gene in a family with leprechaunism
Author(s) -
Longo Nicola,
Langley Sharon D.,
Still Maria J.,
Elsas Louis J.
Publication year - 1995
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1970151113
Subject(s) - insulin , endocrinology , medicine , prenatal diagnosis , insulin receptor , gene , genetics , fetus , biology , pregnancy , insulin resistance
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 using mutational analysis of the insulin receptor gene in DNA from amniotic cells.