title: Unusual Stüve-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 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.
authors.affiliation: Division of Neurology and InterUniversity Center for Research in Neuroscience, Department of Clinical and Experimental Medicine and Surgery, Second University of Naples Naples, Italy.
authors.forename: Mariarosa A B
authors.initials: MA
authors.lastname: Melone
authors.affiliation: Department of Physiology and Pharmacology, OHSU School of Medicine Portland, Oregon.
authors.forename: Michael J
authors.initials: MJ
authors.lastname: Pellegrino
authors.affiliation: Neurology Division, 'Salvatore Maugeri' Foundation IRCCS, Medical Center of Telese Terme Telese Terme, Benevento, Italy.
authors.forename: Maria
authors.initials: M
authors.lastname: Nolano
authors.affiliation: Department of Physiology and Pharmacology, OHSU School of Medicine Portland, Oregon.
authors.forename: Beth A
authors.initials: BA
authors.lastname: Habecker
authors.affiliation: Department of Clinical Science, University of Bergen Bergen, Norway ; Center of Medical Genetics and Molecular Medicine, Haukeland University Hospital Bergen, Norway.
authors.forename: Stefan
authors.initials: S
authors.lastname: Johansson
authors.affiliation: Department of Pharmacology, University of Washington Seattle, Washington.
authors.forename: Neil M
authors.initials: NM
authors.lastname: Nathanson
authors.affiliation: Department of Clinical Science, University of Bergen Bergen, Norway ; Center of Medical Genetics and Molecular Medicine, Haukeland University Hospital Bergen, Norway.
authors.forename: Per M
authors.initials: PM
authors.lastname: Knappskog
authors.affiliation: Department of Clinical Neurological Sciences, London Health Sciences Centre, Western University London, Ontario, Canada.
authors.forename: Angelika F
authors.initials: AF
authors.lastname: Hahn
authors.affiliation: Department of Clinical Science, University of Bergen Bergen, Norway ; Center of Medical Genetics and Molecular Medicine, Haukeland University Hospital Bergen, Norway.
authors.forename: Helge
authors.initials: H
authors.lastname: Boman