title: Genetics of human stature: Insight from single gene disorders.
abstract: Mutations of numerous genes encoding proteins that affect multiple pathways responsible for regulation of cell proliferation can cause growth disturbances in humans. Genes such as HESX1, PROP1, PIT1/POU1F1 and GLI2 have been shown to cause pituitary hormone deficiency. In addition, heterozygous mutations or gene deletions in the growth hormone-insulin-like growth factor (GH-IGF) axis such as the GH, GH-releasing hormone receptor, GH receptor, STAT5b, IGF-I, IGF-I receptor and the acid labile subunit have also been observed in children with growth failure and short stature. More recently, mutations of genes encoding regulators of cell proliferation and division, i.e., the pericentrin gene, have also resulted in severe growth disturbances.
authors.affiliation: Hospital for Children and Adolescents, University of Leipzig, Leipzig, Germany.
authors.forename: W
authors.initials: W
authors.lastname: Kiess
authors.forename: J
authors.initials: J
authors.lastname: Kratzsch
authors.forename: T
authors.initials: T
authors.lastname: Kruis
authors.forename: E
authors.initials: E
authors.lastname: Müller
authors.forename: T
authors.initials: T
authors.lastname: Wallborn
authors.forename: R
authors.initials: R
authors.lastname: Odeh
authors.forename: M
authors.initials: M
authors.lastname: Schlicke
authors.forename: J
authors.initials: J
authors.lastname: Klammt
authors.forename: R
authors.initials: R
authors.lastname: Pfäffle
mesh_terms: D000818:Animals; D000941:Antigens / Q000235:genetics; D001827:Body Height / Q000235:genetics*; D002648:Child; D006130:Growth Disorders / Q000235:genetics*; D018398:Homeodomain Proteins / Q000235:genetics; D019382:Human Growth Hormone / Q000172:deficiency / Q000235:genetics*; D006801:Humans; D007018:Hypopituitarism / Q000235:genetics; D007334:Insulin-Like Growth Factor I / Q000235:genetics; D060850:LIM-Homeodomain Proteins / Q000235:genetics; D008869:Microtubule-Associated Proteins / Q000235:genetics; D010907:Pituitary Hormones / Q000172:deficiency; D017526:Receptor, IGF Type 1 / Q000235:genetics; D050799:STAT5 Transcription Factor / Q000235:genetics; D000074122:Short Stature Homeobox Protein; D050817:Transcription Factor Pit-1 / Q000235:genetics; D014157:Transcription Factors / Q000235:genetics
chemical_list: D000941:Antigens; D018398:Homeodomain Proteins; D060850:LIM-Homeodomain Proteins; C094898:Lhx3 protein; D008869:Microtubule-Associated Proteins; C494187:POU1F1 protein, human; D010907:Pituitary Hormones; C102134:Prophet of Pit-1 protein; C106071:SHOX protein, human; D050799:STAT5 Transcription Factor; C494095:STAT5B protein, human; D000074122:Short Stature Homeobox Protein; D050817:Transcription Factor Pit-1; D014157:Transcription Factors; C086178:pericentrin; D019382:Human Growth Hormone; D007334:Insulin-Like Growth Factor I; D017526:Receptor, IGF Type 1