Characterisation of novel missense mutations in the GH receptor gene causing severe growth retardation

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 show n 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 altera tion suggests that a collapse in three-dimensional receptor structure most likely contributed to the GH insensitivity in these patients.