De novo
genetics
medical
nervous system diseases
pathology
plastic
stomatognathic diseases
surgery
Journal
Journal of medical genetics
ISSN: 1468-6244
Titre abrégé: J Med Genet
Pays: England
ID NLM: 2985087R
Informations de publication
Date de publication:
03 2022
03 2022
Historique:
received:
10
09
2020
revised:
07
12
2020
accepted:
26
12
2020
pubmed:
10
3
2021
medline:
10
5
2022
entrez:
9
3
2021
Statut:
ppublish
Résumé
Pathogenic germline variants in Here we report two unrelated women with a de novo germline p.Leu619Pro From an early age, both patients had several lesions of the nervous system including progressive polyneuropathy, and multiple aggressive giant cell-rich lesions of the jaws and craniofacial/skull bones, and other skeletal lesions. One patient had a relatively milder disease phenotype possibly due to postzygotic somatic mosaicism. Indeed, the Our findings define a novel polysystemic syndrome due to germline
Sections du résumé
BACKGROUND
Pathogenic germline variants in
METHODS
Here we report two unrelated women with a de novo germline p.Leu619Pro
RESULTS
From an early age, both patients had several lesions of the nervous system including progressive polyneuropathy, and multiple aggressive giant cell-rich lesions of the jaws and craniofacial/skull bones, and other skeletal lesions. One patient had a relatively milder disease phenotype possibly due to postzygotic somatic mosaicism. Indeed, the
CONCLUSION
Our findings define a novel polysystemic syndrome due to germline
Identifiants
pubmed: 33685999
pii: jmedgenet-2020-107427
doi: 10.1136/jmedgenet-2020-107427
pmc: PMC8867273
doi:
Substances chimiques
TRPV Cation Channels
0
TRPV4 protein, human
0
Transient Receptor Potential Channels
0
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
305-312Informations de copyright
© Author(s) (or their employer(s)) 2022. Re-use permitted under CC BY. Published by BMJ.
Déclaration de conflit d'intérêts
Competing interests: RG and CCG are research fellows at the National Council for Scientific and Technological Development, Brazil.
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