Open AccessUnusual Stüve‐Wiedemann syndrome with complete maternal chromosome 5 isodisomy
Author(s) -
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
Publication year - 2014
Publication title -
annals of clinical and translational neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.824
H-Index - 42
ISSN - 2328-9503
DOI - 10.1002/acn3.126
Subject(s) - medicine , beckwith–wiedemann syndrome , chromosome , genetics , gene , biology , gene expression , dna methylation
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.