AI Article Synopsis
- A woman with a new mutation in the LIFR gene (c.2170C>G; p.Pro724Ala) was found to have Stüve-Wiedemann syndrome, a condition that disrupts normal signaling pathways.
- She received two identical chromosomes from her mother, who carried a heterozygous mutation in the same gene, but her presentation lacked the typical long bone abnormalities associated with the syndrome.
- Skin biopsies revealed evidence of nerve differentiation issues affecting sweat glands and confirmed the absence of a condition initially diagnosed as cold-induced sweating syndrome.
Article Abstract
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.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4265064 | PMC |
| http://dx.doi.org/10.1002/acn3.126 | DOI Listing |
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