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Journal of Clinical Endocrinology & Metabolism, Vol 80, 1978-1981, Copyright © 1995 by Endocrine Society

ARTICLES

Growth hormone insensitivity syndrome due to point deletion and frame shift in the growth hormone receptor

DR Counts and GB Cutler Jr
University of Maryland, Department of Pediatrics, Baltimore 21201, USA.

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.


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