A Multi-Gene Panel to Identify Lipedema-Predisposing Genetic Variants by a Next-Generation Sequencing Strategy.
NGS
lipedema
partial lipodystrophy
subcutaneaous fat tissue accumulation
Journal
Journal of personalized medicine
ISSN: 2075-4426
Titre abrégé: J Pers Med
Pays: Switzerland
ID NLM: 101602269
Informations de publication
Date de publication:
11 Feb 2022
11 Feb 2022
Historique:
received:
22
12
2021
revised:
07
02
2022
accepted:
08
02
2022
entrez:
25
2
2022
pubmed:
26
2
2022
medline:
26
2
2022
Statut:
epublish
Résumé
Lipedema is a disabling disease characterized by symmetric enlargement of the lower and/or upper limbs due to deposits of subcutaneous fat, that is easily misdiagnosed. Lipedema can be primary or syndromic, and can be the main feature of phenotypically overlapping disorders. The aim of this study was to design a next-generation sequencing (NGS) panel to help in the diagnosis of lipedema by identifying genes specific for lipedema but also genes for overlapping diseases, and targets for tailored treatments. We developed an NGS gene panel consisting of 305 genes potentially associated with lipedema and putative overlapping diseases relevant to lipedema. The genomes of 162 Italian and American patients with lipedema were sequenced. Twenty-one deleterious variants, according to 3 out of 5 predictors, were detected in
Identifiants
pubmed: 35207755
pii: jpm12020268
doi: 10.3390/jpm12020268
pmc: PMC8877075
pii:
doi:
Types de publication
Journal Article
Langues
eng
Subventions
Organisme : Provincia Autonoma di Trento
ID : dpg 1045/2017
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