Genetic variations in familial hypercholesterolemia and cascade screening in East Asians.

ABSTRACT:

Background

Familial hypercholesterolemia (FH) is a monogenic disorder of lipoprotein metabolism leading to an increased risk of premature cardiovascular disease. Genetic testing for FH is not commonly used in Asian countries. We aimed to define the genetic spectrum of FH in Hong Kong and to test the feasibility of cascade genetic screening.

Methods

Ninety-six Chinese subjects with a clinical diagnosis of FH were recruited, and family-based cascade screening incorporating genetic testing results was performed.

Results

Forty-two distinct mutations were identified in 67% of the index FH cases. The majority of causative mutations were in the LDLR gene. The three commonest mutations in the LDLR gene were NM_000527.4(LDLR): c.1241 T>G, NM_000527.4(LDLR): c.1474G>A, and NM_0

SUBMITTER: Chan ML 

PROVIDER: S-EPMC6393658 | biostudies-literature | 2019 Feb

REPOSITORIES: biostudies-literature