title: Characterisation of novel missense mutations in the GH receptor gene causing severe growth retardation.
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.
authors.affiliation: Department of Molecular Medicine, Karolinska Hospital S-171 76 Stockholm, Sweden.
authors.forename: B
authors.initials: B
authors.lastname: Enberg
authors.forename: H
authors.initials: H
authors.lastname: Luthman
authors.forename: K
authors.initials: K
authors.lastname: Segnestam
authors.forename: E M
authors.initials: EM
authors.lastname: Ritzén
authors.forename: M
authors.initials: M
authors.lastname: Sundström
authors.forename: G
authors.initials: G
authors.lastname: Norstedt
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001120:Arginine; D002675:Child, Preschool; D004247:DNA / Q000097:blood; D004912:Erythrocytes / Q000737:chemistry; D006130:Growth Disorders / Q000235:genetics*; D019382:Human Growth Hormone / Q000008:administration & dosage / Q000097:blood; D006801:Humans; D007334:Insulin-Like Growth Factor I / Q000008:administration & dosage / Q000378:metabolism / Q000627:therapeutic use; D008297:Male; D008958:Models, Molecular; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D011986:Receptors, Somatotropin / Q000737:chemistry / Q000235:genetics*; D016415:Sequence Alignment; D017422:Sequence Analysis, DNA
chemical_list: D011986:Receptors, Somatotropin; D019382:Human Growth Hormone; D007334:Insulin-Like Growth Factor I; D004247:DNA; D001120:Arginine