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Goldstein, J.L., Hobbs, H. and Brown, M.S. (1995) Familial Hypercholesterolemia. In: Scriver, C.R., Beaudet, A.L., Sly, W.S. and Valle, D., Eds., The Metabolic and Molecular Bases of Inherited Disease, 7th Edition, McGraw-Hill, New York, 1981-2030.

has been cited by the following article:

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

  AUTHORS: Rita Lourenço, Luísa Martins, João Anselmo, Marina Rita Soares, Ana Medeiros, Mafalda Bourbon, Rui César, Fernanda Gomes

  KEYWORDS: Familial Hypercholesterolemia, LDL Receptor Gene, Pediatric Patients, Statins

  JOURNAL NAME: Advances in Bioscience and Biotechnology, Vol.5 No.8, July 10, 2014

  ABSTRACT: 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 (LDLR gene was carried out. In the affected cases, an intronic heterozygous point mutation (c.818-3C > G) causing a premature termination of transcription (stop codon) was identified.