Next-generation sequencing verified by multiplex ligation-dependent probe amplification to detect a new copy number variations in a child with heterozygous familial hypercholesterolemia  

作　　者：Hui Yan Jian-Hui Qiu Yi-Nan Ma Yang Xiao Jun-Bao Du 

机构地区：[1]Departm ent of Pediatrics,Peking University First Hospital,Beijing 100034,China [2]Department of Central Laboratory,Peking University First Hospital,Beijing 100034,China

出　　处：《Chinese Medical Journal》2021年第7期840-841,共2页中华医学杂志（英文版）

摘　　要：Familial hypercholesterolemia(FH)is a common autosomal dominant disorder of lipid metabolism.Mutations in the low density lipoprotein receptor gene(LDLR)represent the majority of FH cases.LDLR mutations are codominantly inherited.Commonly,the clinical phenotype associated with heterozygous mutations is relatively mild,whereas homozygous mutations,compound heterozygous mutations,and double gene mutations in LDLR lead to severe phenotypes.However,some heterozygous FH(HeFH)and homozygous FH(HoFH)patients have similar lipid levels.Because of the quite different prognosis and treatments for these patients,accurate diagnosis is especially important.Gene testing plays an essential role in the diagnosis of FH,but finding the appropriate mutations by genetic testing is not always simple.

关 键 词：DIAGNOSIS TESTING LIPOPROTEIN 

分 类 号：R725.8[医药卫生—儿科]