title: Growth hormone insensitivity syndrome due to point deletion and frame shift in the growth hormone receptor.
abstract: By direct amplification and sequencing of genomic DNA by the polymerase chain reaction, we have identified a unique 2-base deletion in the growth hormone receptor gene of a patient with extreme short stature and growth hormone insensitivity (Laron) syndrome. We found a deletion of bases 118-119 in exon 4, which corresponds to the extracellular domain of the growth hormone receptor. Since this mutation encodes a frameshift in the amino acid sequence and a stop codon relatively early in the translation of the growth hormone receptor, we conclude that this deletion caused the growth hormone insensitivity in this patient.
authors.affiliation: University of Maryland, Department of Pediatrics, Baltimore 21201, USA.
authors.forename: D R
authors.initials: DR
authors.lastname: Counts
authors.forename: G B
authors.initials: GB
authors.lastname: Cutler
mesh_terms: D000293:Adolescent; D000595:Amino Acid Sequence; D001483:Base Sequence; D003241:Consanguinity; D004247:DNA / Q000737:chemistry; D004351:Drug Resistance / Q000235:genetics; D016368:Frameshift Mutation; D006130:Growth Disorders / Q000235:genetics*; D013006:Growth Hormone / Q000494:pharmacology*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D011986:Receptors, Somatotropin / Q000737:chemistry / Q000187:drug effects / Q000235:genetics*
chemical_list: D011986:Receptors, Somatotropin; D013006:Growth Hormone; D004247:DNA