Expanding the genetic spectrum for Chinese familial hypercholesterolemia population with six genetic mutations identified using a next-generation sequencing-based laboratory-developed screening test.

ABSTRACT:

Background

This study was to reveal the prevalence of definite familial hypercholesterolemia (FH) in the hospital-visiting population, determine the pathogenic mutation detection rate in clinically diagnosed definite FH patients, and expand the FH mutation spectrum in China.

Methods

Blood lipid profiles of 41,803 patients visiting the hospital were investigated and 4967 patients with clinical diagnoses of other metabolic diseases were excluded. One hundred and seventy-three (0.41%) received a definite diagnosis of FH according to the Dutch Lipid Clinical Network Criteria-Chinese Revised Version (DLCN-CRV), and 18 patients subsequently agreed to undergo genetic testing. A next-generation sequencing (NGS)-based laboratory-developed test covering the exonic regions of 24 lipid

SUBMITTER: Jingxin S 

PROVIDER: S-EPMC9747561 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature