Isolated growth hormone (GH) deficiency type IA associated with a 45-kilobase gene deletion within the human GH gene cluster

Abstract

A Turkish family of seven individuals (two parents and five offspring) is described in which three children presented with isolated GH deficiency type IA, as defined by Illig et al. The gene deletion responsible for the isolated GH deficiency was characterized by Southern blotting and hybridization analysis of genomic DNA using a 32P-labeled hGH cDNA clone as a probe. In the affected patients, a total of approximately 45 kilobases of DNA, encompassing the human (h) GH-1, human chorionic somatomammotropin-L (hCS-L), hCS-A, and hGH-2 genes, were deleted. The end points of the deletion lay within two regions of highly homologous DNA sequence situated 5' to the hGH-1 gene and 5' to the hCS-B gene. The retention of only the hCS-B gene was associated with normal weight and length at birth and normal postpartum lactation in the mother heterozygous for the deletion. The parents, who are consanguineous, both presented with a DNA restriction pattern consistent with heterozygosity for this deletion.