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

• 作者: Ana Medeiros Fernanda Gomes Jo?o Anselmo Luísa Martins Mafalda Bourbon Marina Rita Soares Rita Louren?o Rui César
• 来源期刊: 生命科学与技术进展(英文)
• 学科: 医学
• 关键词: FAMILIAL HYPERCHOLESTEROLEMIA LDL RECEPTOR Gene PEDIATRIC Patients STATINS
• 年，卷（期）: smkxyjsjzyw_2014,（8）
• 页码范围: 685-691
• 页数: 7页
• 分类号: R5

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 (<115 mg/dL) was found in routine blood tests. There was a paternal history of hypercholesterolemia, corneal arcus and myocardial infarction at an early age. Screening for mutations in LDLR gene was carried out. &#73n the affected cases, an intronic heterozygous point mutation (c.818-3C > G) causing a premature termination of transcription (stop codon) was identified.