Familial Hypercholesterolemia in an Azorean Family:A Novel Mutation in the Low-Density Lipoprotein Receptor Gene

作     者：Rita Lourenco Luisa Martins Joao Anselmo Marina Rita Soares Ana Medeiros Mafalda Bourbon Rui Cesar Fernanda Gomes 

作者机构：Department of PediatricsHospital do Divino Espírito Santo de Ponta DelgadaAzoresPortugal Department of EndocrinologyHospital do Divino Espirito Santo de Ponta DelgadaAzoresPortugal Instituto Nacional de Saúde Dr.Ricardo JorgeLisbonPortugal 

出 版 物：《Advances in Bioscience and Biotechnology》 (生命科学与技术进展（英文）)

年 卷 期：2014年第5卷第8期

页      面：685-691页

学科分类：1002[医学-临床医学] 100201[医学-内科学(含：心血管病、血液病、呼吸系病、消化系病、内分泌与代谢病、肾病、风湿病、传染病)] 10[医学] 

主　　题：Familial Hypercholesterolemia LDL Receptor Gene Pediatric Patients Statins 

摘      要：Familial hypercholesterolemia (FH) is one of the most prevalent autosomal dominant inherited disorders. Mutations have been found in at least 3 genes: the low-density lipoprotein receptor (LDLR), apolipoprotein B (APOB), and proprotein convertase subtilisin/kexin type 9 (PCSK9). We report on an Azorean family with FH due to a novel mutation in the LDLR gene across three generations. The index-case was first seen at our endocrinology consultation at 12 years old, because of delayed growth and development. Laboratorial investigations revealed a complete failure of the anterior hypophysis due to a congenital malformation of the sella turcica. A total cholesterol of 313 mg/dL (90 - 190 mg/dL) and low-density lipoprotein cholesterol (LDL-C) of 262 mg/dL ( G) causing a premature termination of transcription (stop codon) was identified.