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

17 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 1 2014

Funding

The study was supported in part through National Institutes of Health grant HL068231 to Professor Dr. Beth Habecker, PhD. The authors gratefully acknowledge the contribution of the following participating investigators: Francesca Calif-ano, M.D. and Carla Schettino, M.D. who provided and cared for the study patient; Vincenzo Provitera, M.D. and Giuseppe Caporaso BS who participated in the autonomic testing and the morphological studies. Sigrid Erdal, Trude Høysæter, and Jorunn S. Bringsli provided expert technical assistance. Cell transfection experiments and functional studies of the LIFR mutant were supported by the National Institutes of Health grant HL068231 to Professor Beth Habecker, Ph.D.

Funders	Funder number
Author National Institutes of Health National Institutes of Health National Institutes of Health National Institutes of Health The Bev Hartig Huntington's Disease Foundation National Institutes of Health	HL068231
Author National Institutes of Health National Institutes of Health National Institutes of Health National Institutes of Health The Bev Hartig Huntington's Disease Foundation National Institutes of Health	HL068231

ASJC Scopus subject areas

General Neuroscience
Clinical Neurology

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10.1002/acn3.126

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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 - 2014/11/1

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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

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ASJC Scopus subject areas

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