Abstract
We present a highly inbred Bedouin kindred of 4 families containing 7 males and 6 females with isolated growth hormone deficiency (IGHD). Patients have normal height parents, exhibit extreme short stature (Hts - 4 to -5 SDS), absent to low responses to GH stimulation tests, no response to GHRH stimulation and tow levels of IGF-binding proteins. They responded well to GH therapy and did not develop antibodies to GH. We used a two stage PCR strategy to study GH-1 genes in two of the families. Amplification of a 2.2 kb GH-1 gene fragment from each specimen excluded IGHD IA (GH-1 gene deletion). The second round of PCR amplified 500 bp of GH-1 promoter sequence for SSCP analysis, a technique which detects single base differences. Polymorphisms disclosed by Hin ell digestion of the 2.2 kb product and by SSCP analysis of the 500 bp product were informative. Affected individuals displayed three different GH-1 haplotypes. This eliminated the possibility that their IGHD is caused by inheritance of a mutation in or near the GH-1 gene. This kindred provides an excellent example of IGHD IB with homozygosity by descent and illustrates the need to identify and examine other candidate genes that contribute to GH synthesis and/or secretion.
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Leiberman, E., Carmi, R., Limoni, Y. et al. MOLECULAR ANALYSIS OF A LARGE BEDOUIN KINDRED WITH IGHD, TYPE IB. Pediatr Res 33 (Suppl 5), S40 (1993). https://doi.org/10.1203/00006450-199305001-00222
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DOI: https://doi.org/10.1203/00006450-199305001-00222