3,159
Views
1
CrossRef citations to date
0
Altmetric
Articles

A case of familial hypercholesterolemia caused by homozygous deletion in the LDLR gene diagnosed by targeted next-generation sequencing

ORCID Icon, ORCID Icon, ORCID Icon, &
Pages 11-16 | Received 27 May 2019, Accepted 13 Sep 2019, Published online: 30 Sep 2019
 

Abbreviations

Apo-B=

Apolipoprotein B

ASCVD=

Atherosclerotic Cardiovascular Disease

CAD=

Coronary artery disease

CT=

Computed tomography

FH=

Familial hypercholesterolaemia

HDL-C=

High density lipoprotein - cholesterol

HeFH=

Heterozygous familial hypercholesterolaemia

HoFH=

Homozygous familial hypercholesterolaemia

ICA=

Internal carotid artery

LDL-C=

Low-density lipoprotein-cholesterol

LDLR=

Low-density lipoprotein receptor

LDLRAP 1=

Low-density lipoprotein receptor adaptor protein 1

MTTP=

Microsomal triglyceride transfer protein

NGS=

Next generation sequencing

PCSK9=

Proprotein convertase subtilisin/kexin type 9

PCR=

Polymerase chain reaction

RCA=

Right coronary artery

VLDL-C=

Very low-density lipoprotein - cholesterol

Disclosure statement

No potential conflict of interest was reported by the authors.

Consent

Consent was obtained from a family member to report this case. Also, Ethics Committee permission to proceed with publication was obtained (although this is not mandatory for our institution).