A gene deletion is responsible for absence of human chorionic somatomammotropin.

We have examined the human growth hormone (hGH) and human chorionic somatomammotropin (hCS) family of genes in genomic DNA from an individual with complete antenatal deficiency of hCS. Following digestion with a variety of bacterial restriction endonucleases, the DNA from this individual produced fewer fragments with homology to a radiolabeled hCS cDNA probe than did control DNA specimens. The patterns indicated that his DNA contained the normal hGH gene and an "hGH-like" gene, but lacked the hCS gene, a variant hGH gene, and another gene or genes with structural homology to hGH and hCS, which were present in all control DNA specimens. The findings were consistent with homozygosity for a gene deletion with a minimum length of 18.5 kb. Analysis of polymorphic restriction site variation related to the hGH and hCS gene cluster indicated that both parents and three older siblings were heterozygous for the deletion. The association between gene deletion and a normal growth pattern in this individual indicates that hCS and any other peptide hormones encoded by the variant hGH and the other related gene(s) that are deleted in this individual are not required for fetal or extrauterine growth.