Division of Neurology and InterUniversity Center for Research in Neuroscience, Department of Clinical and Experimental Medicine and Surgery, Second University of Naples Naples, Italy.
Department of Physiology and Pharmacology, OHSU School of Medicine Portland, Oregon.
Ann Clin Transl Neurol. 2014 Nov;1(11):926-32. doi: 10.1002/acn3.126. Epub 2014 Oct 24.
A woman was isozygous for a novel mutation in the leukemia inhibitory factor receptor gene (LIFR) (c.2170C>G; p.Pro724Ala) which disrupts LIFR downstream signaling and results in Stüve-Wiedemann syndrome (STWS). She inherited two identical chromosomes 5 from her mother, heterozygous for the LIFR mutation. The presentation was typical for STWS, except there was no long bone dysplasia. Prominent cold-induced sweating and heat intolerance lead to an initial diagnosis of cold-induced sweating syndrome, excluded by exome sequencing. Skin biopsies provide the first human evidence of failed postnatal cholinergic differentiation of sympathetic neurons innervating sweat glands in cold-induced sweating, and of a neuropathy.
一名女性在白血病抑制因子受体基因 (LIFR) 中存在一种新型突变（c.2170C>G；p.Pro724Ala），这种突变会破坏 LIFR 下游信号通路，导致 Stüve-Wiedemann 综合征 (STWS)。她从母亲那里遗传了两条相同的 5 号染色体，杂合子携带 LIFR 突变。其表现符合 STWS 的典型特征，但没有长骨发育不良。明显的冷诱导性出汗和耐热性差导致最初诊断为冷诱导性出汗综合征，但外显子组测序排除了这一诊断。皮肤活检为冷诱导性出汗中支配汗腺的交感神经元的胆碱能分化失败以及神经病变提供了首例人类证据。
