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.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 926-932 |
| Number of pages | 7 |
| Journal | Annals of Clinical and Translational Neurology |
| Volume | 1 |
| Issue number | 11 |
| DOIs | |
| State | Published - 2014 |
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ASJC Scopus subject areas
- Clinical Neurology
- Neuroscience(all)
Cite this
Unusual Stüve-Wiedemann syndrome with complete maternal chromosome 5 isodisomy. / Melone, Mariarosa A.B.; Pellegrino, Michael J.; Nolano, Maria; Habecker, Beth; Johansson, Stefan; Nathanson, Neil M.; Knappskog, Per M.; Hahn, Angelika F.; Boman, Helge.
In: Annals of Clinical and Translational Neurology, Vol. 1, No. 11, 2014, p. 926-932.Research output: Contribution to journal › Article
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TY - JOUR
T1 - Unusual Stüve-Wiedemann syndrome with complete maternal chromosome 5 isodisomy
AU - Melone, Mariarosa A.B.
AU - Pellegrino, Michael J.
AU - Nolano, Maria
AU - Habecker, Beth
AU - Johansson, Stefan
AU - Nathanson, Neil M.
AU - Knappskog, Per M.
AU - Hahn, Angelika F.
AU - Boman, Helge
PY - 2014
Y1 - 2014
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=84969387615&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84969387615&partnerID=8YFLogxK
U2 - 10.1002/acn3.126
DO - 10.1002/acn3.126
M3 - Article
AN - SCOPUS:84969387615
VL - 1
SP - 926
EP - 932
JO - Annals of Clinical and Translational Neurology
JF - Annals of Clinical and Translational Neurology
SN - 2328-9503
IS - 11
ER -