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 polymeras e chain reaction, we have identified a unique 2-base deletion in the g rowth hormone receptor gene of a patient with extreme short stature an d growth hormone insensitivity (Laron) syndrome. We found a deletion o f bases 118 - 119 in exon 4, which corresponds to the extracellular do main of the growth hormone receptor. Since this mutation encodes a fra meshift in the amino acid sequence and a stop codon relatively early i n the translation of the growth hormone receptor, we conclude that thi s deletion caused the growth hormone insensitivity in this patient.