Stüve-Wiedemann syndrome: LIFR and associated cytokines in clinical course and etiology

Orphanet Journal of Rare Diseases

Julia Thom Oxford¹  Ken Tawara¹  Cheryl L Jorcyk¹  Dawn Mikelonis¹ 

[1] Boise State University, Department of Biological Sciences, Biomolecular Research Center, 1910 University Drive, Boise State University, Boise ID 83725, USA

关键词: LIFR;    LIF;    Leukemia inhibitory factor receptor;    Stüve-Wiedemann syndrome;   

Others  :  863236
DOI  :  10.1186/1750-1172-9-34

 received in 2013-11-23, accepted in 2014-03-06,  发布年份 2014

【 摘 要 】

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.

【 授权许可】

   
2014 Mikelonis et al.; licensee BioMed Central Ltd.

【 图 表 】

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