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

Physiology & Pharmacology

Research output: Contribution to journal › Article

6 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 - 2014

ASJC Scopus subject areas

Neuroscience(all)
Clinical Neurology

Access to Document

10.1002/acn3.126

Fingerprint Dive into the research topics of 'Unusual Stüve-Wiedemann syndrome with complete maternal chromosome 5 isodisomy'. Together they form a unique fingerprint.

Cite this

Melone, M. A. B., Pellegrino, M. J., Nolano, M., Habecker, B. A., Johansson, S., Nathanson, N. M., Knappskog, P. M., Hahn, A. F., & 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 A.; 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

@article{5cede563102346d4ba8bd4055c4bc019,

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.",

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

year = "2014",

doi = "10.1002/acn3.126",

language = "English (US)",

volume = "1",

pages = "926--932",

journal = "Annals of Clinical and Translational Neurology",

issn = "2328-9503",

publisher = "John Wiley and Sons Inc.",

number = "11",

}

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 A.

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 -