Mikelonis Dawn, Jorcyk Cheryl L, Tawara Ken, Oxford Julia Thom
Boise State University, Department of Biological Sciences, Biomolecular Research Center, 1910 University Drive, Boise State University, Boise ID 83725, USA.
Orphanet J Rare Dis. 2014 Mar 12;9:34. doi: 10.1186/1750-1172-9-34.
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.
施特韦-维德曼综合征（STWS；OMIM #610559）是一种罕见的弯骨发育不良疾病，其特征包括骨骼影像学异常、呼吸窘迫、喂养困难和体温过高发作。STWS通常导致婴儿死亡，但一些STWS患者存活至青春期，在某些情况下甚至超过青春期。STWS由白血病抑制因子受体（LIFR）基因突变引起，该基因以常染色体隐性模式遗传。导致STWS的大多数LIFR突变都是无效突变，会导致mRNA不稳定并阻止LIFR的形成，从而损害信号通路。LIFR信号传导通常遵循JAK/STAT3途径，并由几种白细胞介素-6型细胞因子启动。由于目前尚无治疗方法，STWS以对症治疗为主。
