Genetic analysis of a patient with familial hypercholesterolemia due to variant of LDLR gene.
10.3760/cma.j.cn511374-20210109-00022
- VernacularTitle:LDLR基因变异所致家族性高胆固醇血症患者1例的遗传学分析
- Author:
Guanxiong WANG
1
;
Liting LIU
;
Yang GAO
;
Mingrong LYU
;
Huan WU
;
Xiaojin HE
Author Information
1. Reproductive Medicine Center of Obstetrics and Gynecology, the First Affiliated Hospital of Anhui Medical University, Hefei, Anhui 230022, China. hxj0117@126.com.
- Publication Type:Journal Article
- MeSH:
Humans;
Cholesterol, LDL/genetics*;
Heterozygote;
Hyperlipoproteinemia Type II/genetics*;
Mutation;
Pedigree;
Phenotype;
Receptors, LDL/genetics*
- From:
Chinese Journal of Medical Genetics
2023;40(4):458-461
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To analyze variant of LDLR gene in a patient with familial hypercholesterolemia (FH) in order to provide a basis for the clinical diagnosis and genetic counseling.
METHODS:A patient who had visited the Reproductive Medicine Center of the First Affiliated Hospital of Anhui Medical University in June 2020 was selected as the study subject. Clinical data of the patient was collected. Whole exome sequencing (WES) was applied to the patient. Candidate variant was verified by Sanger sequencing. Conservation of the variant site was analyzed by searching the UCSC database.
RESULTS:The total cholesterol level of the patient was increased, especially low density lipoprotein cholesterol. A heterozygous c.2344A>T (p.Lys782*) variant was detected in the LDLR gene. Sanger sequencing confirmed that the variant was inherited from the father.
CONCLUSION:The heterozygous c.2344A>T (p.Lys782*) variant of the LDLR gene probably underlay the FH in this patient. Above finding has provided a basis for genetic counseling and prenatal diagnosis for this family.
