Growth hormone insensitivity syndrome due to point deletion and frame shift in the growth hormone receptor.
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.
Counts
D R
DR
University of Maryland, Department of Pediatrics, Baltimore 21201, USA.
Cutler
G B
GB
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*
D011986:Receptors, Somatotropin; D013006:Growth Hormone; D004247:DNA