Unusual Stüve-Wiedemann syndrome with complete maternal chromosome 5 isodisomy

Mariarosa A.B. Melone, Michael J. Pellegrino, Maria Nolano, Beth Habecker, Stefan Johansson, Neil M. Nathanson, Per M. Knappskog, Angelika F. Hahn, Helge Boman

Research output: Contribution to journalArticle

6 Citations (Scopus)

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 languageEnglish (US)
Pages (from-to)926-932
Number of pages7
JournalAnnals of Clinical and Translational Neurology
Volume1
Issue number11
DOIs
StatePublished - 2014

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OSM-LIF Receptors
Chromosomes, Human, Pair 5
Mothers
Developmental Bone Disease
Genes
Exome
Sweat Glands
Mutation
Cholinergic Agents
Hot Temperature
Biopsy
Neurons
Skin
Crisponi syndrome

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)

Cite this

Melone, M. A. B., Pellegrino, M. J., Nolano, M., Habecker, B., Johansson, S., Nathanson, N. M., ... Boman, H. (2014). Unusual Stüve-Wiedemann syndrome with complete maternal chromosome 5 isodisomy. Annals of Clinical and Translational Neurology, 1(11), 926-932. https://doi.org/10.1002/acn3.126

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 journalArticle

Melone, MAB, Pellegrino, MJ, Nolano, M, Habecker, B, Johansson, S, Nathanson, NM, Knappskog, PM, Hahn, AF & Boman, H 2014, 'Unusual Stüve-Wiedemann syndrome with complete maternal chromosome 5 isodisomy', Annals of Clinical and Translational Neurology, vol. 1, no. 11, pp. 926-932. https://doi.org/10.1002/acn3.126
Melone, Mariarosa A.B. ; Pellegrino, Michael J. ; Nolano, Maria ; Habecker, Beth ; Johansson, Stefan ; Nathanson, Neil M. ; Knappskog, Per M. ; Hahn, Angelika F. ; Boman, Helge. / Unusual Stüve-Wiedemann syndrome with complete maternal chromosome 5 isodisomy. In: Annals of Clinical and Translational Neurology. 2014 ; Vol. 1, No. 11. pp. 926-932.
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AU - Johansson, Stefan

AU - Nathanson, Neil M.

AU - Knappskog, Per M.

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