Abstract
Two Swedish brothers, 2.5 and 4 years of age, were found to fulfil all the clinical and laboratory characteristics of Laron's syndrome. They were shown to have unique missense mutations in the GH receptor gene. Both of their parents were of normal height, but they both separately carried one of the identified gene alterations. A molecular model of the first receptor alteration suggests that a collapse in three-dimensional receptor structure most likely contributed to the GH insensitivity in these patients.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Amino Acid Sequence
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Animals
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Arginine
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Child, Preschool
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DNA / blood
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Erythrocytes / chemistry
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Growth Disorders / genetics*
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Human Growth Hormone / administration & dosage
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Human Growth Hormone / blood
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Humans
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Insulin-Like Growth Factor I / administration & dosage
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Insulin-Like Growth Factor I / metabolism
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Insulin-Like Growth Factor I / therapeutic use
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Male
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Models, Molecular
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Molecular Sequence Data
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Mutation, Missense*
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Receptors, Somatotropin / chemistry
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Receptors, Somatotropin / genetics*
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Sequence Alignment
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Sequence Analysis, DNA
Substances
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Receptors, Somatotropin
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Human Growth Hormone
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Insulin-Like Growth Factor I
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DNA
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Arginine