Molecular Genetics of Growth Hormone Primus E Mullis KIGS 10 Year Book, 1999

Hypothalamus Pituitary Gland Gas protein Adenyl cyclase Prop-1 Btk Pit-1 Liver Jak2 Stats Blood IGFBPs IGFBP proteases Bones GHRH Somastatin GHRH receptor GH receptor IGF-I -receptor Schematic representation of the hypothalamic-pituitary-peripheral tissue axis P E Mullis - KIGS 10 Year Book, 1999

Phenotype and genetic disorders of GH biosynthesis and action

Familial isolated GHD; patterns of inheritance P E Mullis - KIGS 10 Year Book, 1999

Missense mutation ’ exons ACA-->ACG CTG C->TGC GAG TCT AT--> GCT TAT Thr Ala Leu Cys Glu Ser Val Tyr 20 TGG-->TAG Trp Stop GT GAGT --> GTGAGC GT-->AT +28G->A GT--> CT GT--> TT x Frameshift Stop oodon Splicing error Silent mutation I II III IV V X GAG-->TAG GAA-->GGA GU Stop Glu Gly GTC-->GTG Val 183 GGC--> CAC Arg His 173 3’ Schematic representation of the GH-I gene showing the locations of various mutations