Unusual Stüve-Wiedemann syndrome with complete maternal chromosome 5 isodisomy

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

doi:10.1002/acn3.126

Unusual Stüve-Wiedemann syndrome with complete maternal chromosome 5 isodisomy

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

Chemical Physiology and Biochemistry

Research output: Contribution to journal › Article › peer-review

13 Scopus citations

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	https://doi.org/10.1002/acn3.126
State	Published - Nov 2014

ASJC Scopus subject areas

Neuroscience(all)
Clinical Neurology

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title = "Unusual St{\"u}ve-Wiedemann syndrome with complete maternal chromosome 5 isodisomy",

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 St{\"u}ve-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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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 A.

AU - Johansson, Stefan

AU - Nathanson, Neil M.

AU - Knappskog, Per M.

AU - Hahn, Angelika F.

AU - Boman, Helge

PY - 2014/11

Y1 - 2014/11

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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.

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Unusual Stüve-Wiedemann syndrome with complete maternal chromosome 5 isodisomy

Abstract

ASJC Scopus subject areas

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