Unusual Stüve-Wiedemann syndrome with complete maternal chromosome 5 isodisomy
| Autor: | Maria Nolano, Neil M. Nathanson, Helge Boman, Beth A. Habecker, Angelika F Hahn, Stefan Johansson, Mariarosa A. B. Melone, Per M. Knappskog, Michael J. Pellegrino |
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| Přispěvatelé: | Melone, Mariarosa Anna Beatrice, Pellegrino, Michael J, Nolano, Maria, Habecker, Beth A, Johansson, Stefan, Nathanson, Neil M, Knappskog, Per M, Hahn, Angelika F, Boman, Helge, Melone, Mariarosa A. B., Pellegrino, Michael J., Habecker, Beth A., Nathanson, Neil M., Knappskog, Per M., Hahn, Angelika F. |
| Rok vydání: | 2014 |
| Předmět: |
Pathology
medicine.medical_specialty Leukemia inhibitory factor receptor medicine.disease_cause 03 medical and health sciences 0302 clinical medicine Medicine Exome sequencing 030304 developmental biology Isodisomy 0303 health sciences Heat intolerance Mutation Neuroscience (all) integumentary system business.industry General Neuroscience Chromosome medicine.disease 3. Good health Dysplasia Cholinergic Neurology (clinical) medicine.symptom Brief Communications business 030217 neurology & neurosurgery |
| Zdroj: | Annals of Clinical and Translational Neurology |
| ISSN: | 2328-9503 |
| DOI: | 10.1002/acn3.126 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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