title: Stüve-Wiedemann syndrome: LIFR and associated cytokines in clinical course and etiology.
abstract: Stüve-Wiedemann syndrome (STWS; OMIM #610559) is a rare bent-bone dysplasia that includes radiologic bone anomalies, respiratory distress, feeding difficulties, and hyperthermic episodes. STWS usually results in infant mortality, yet some STWS patients survive into and, in some cases, beyond adolescence. STWS is caused by a mutation in the leukemia inhibitory factor receptor (LIFR) gene, which is inherited in an autosomally recessive pattern. Most LIFR mutations resulting in STWS are null mutations which cause instability of the mRNA and prevent the formation of LIFR, impairing the signaling pathway. LIFR signaling usually follows the JAK/STAT3 pathway, and is initiated by several interleukin-6-type cytokines. STWS is managed on a symptomatic basis since there is no treatment currently available.
authors.forename: Dawn
authors.initials: D
authors.lastname: Mikelonis
authors.forename: Cheryl L
authors.initials: CL
authors.lastname: Jorcyk
authors.forename: Ken
authors.initials: K
authors.lastname: Tawara
authors.affiliation: Boise State University, Department of Biological Sciences, Biomolecular Research Center, 1910 University Drive, Boise State University, Boise ID 83725, USA. joxford@boisestate.edu.
authors.forename: Julia Thom
authors.initials: JT
authors.lastname: Oxford
mesh_terms: D016207:Cytokines / Q000502:physiology*; D005097:Exostoses, Multiple Hereditary / Q000209:etiology / Q000235:genetics / Q000503:physiopathology*; D006801:Humans; D007231:Infant, Newborn; D053680:Leukemia Inhibitory Factor Receptor alpha Subunit / Q000378:metabolism / Q000502:physiology*; D009154:Mutation; D010009:Osteochondrodysplasias / Q000209:etiology / Q000235:genetics / Q000503:physiopathology*; D015398:Signal Transduction
chemical_list: D016207:Cytokines; C507840:LIFR protein, human; D053680:Leukemia Inhibitory Factor Receptor alpha Subunit