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.