Next-generation sequencing to confirm clinical familial hypercholesterolemia.
APOB
DLCN
Familial hypercholesterolemia
LDLR
MedPed
PCSK9
cholesterol
lipid metabolism
mutation
next-generation sequencing
Journal
European journal of preventive cardiology
ISSN: 2047-4881
Titre abrégé: Eur J Prev Cardiol
Pays: England
ID NLM: 101564430
Informations de publication
Date de publication:
27 Jul 2020
27 Jul 2020
Historique:
entrez:
29
7
2020
pubmed:
29
7
2020
medline:
29
7
2020
Statut:
aheadofprint
Résumé
Familial hypercholesterolemia is characterised by high low-density lipoprotein-cholesterol levels and is caused by a pathogenic variant in Targeted next-generation sequencing of 27 genes involved in lipid metabolism was performed in patients with low-density lipoprotein-cholesterol levels greater than 5 mmol/L who were referred to our centre between May 2016 and July 2018. The proportion of patients carrying likely pathogenic or pathogenic variants in A total of 227 out of the 1528 referred patients (14.9%) were heterozygous carriers of a pathogenic variant in A rare pathogenic variant in
Sections du résumé
BACKGROUND
BACKGROUND
Familial hypercholesterolemia is characterised by high low-density lipoprotein-cholesterol levels and is caused by a pathogenic variant in
METHODS
METHODS
Targeted next-generation sequencing of 27 genes involved in lipid metabolism was performed in patients with low-density lipoprotein-cholesterol levels greater than 5 mmol/L who were referred to our centre between May 2016 and July 2018. The proportion of patients carrying likely pathogenic or pathogenic variants in
RESULTS
RESULTS
A total of 227 out of the 1528 referred patients (14.9%) were heterozygous carriers of a pathogenic variant in
CONCLUSIONS
CONCLUSIONS
A rare pathogenic variant in
Identifiants
pubmed: 32718233
doi: 10.1177/2047487320942996
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM