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Unusual Stuve-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.

SUBMITTER: Melone MA

PROVIDER: S-EPMC4265064 | biostudies-literature | 2014 Nov

REPOSITORIES: biostudies-literature

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Unusual Stüve-Wiedemann syndrome with complete maternal chromosome 5 isodisomy.

Melone Mariarosa A B MA Pellegrino Michael J MJ Nolano Maria M Habecker Beth A BA Johansson Stefan S Nathanson Neil M NM Knappskog Per M PM Hahn Angelika F AF Boman Helge H

Annals of clinical and translational neurology 20141024 11

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 syndro ...[more]

PMID: 25540807

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