title: Familial growth hormone deficiency resulting from a 7.6 kb deletion within the growth hormone gene cluster.
abstract: We report on two sibs with familial isolated growth hormone deficiency (IGHD) resulting from homozygosity for a 7.6 kb deletion within the growth hormone gene cluster. The deletion not only affects the structural gene for growth hormone (GH-N) but also alters sequences adjacent to the chorionic somatomammotropin-like (CS-L) gene. In contrast to previously reported cases with IGHD type IA, our two patients responded well to growth hormone substitution and formation of blocking antibodies did not occur.
mesh_terms: D002872:Chromosome Deletion; D002874:Chromosome Mapping; D004262:DNA Restriction Enzymes; D005260:Female; D006130:Growth Disorders / Q000188:drug therapy / Q000235:genetics*; D013006:Growth Hormone / Q000172:deficiency* / Q000235:genetics / Q000627:therapeutic use; D006801:Humans; D008297:Male; D005810:Multigene Family; D011627:Puberty
chemical_list: D013006:Growth Hormone; D004262:DNA Restriction Enzymes