Familial Hypercholesterolemia in an Azorean Family: A Novel Mutation in the Low-Density Lipoprotein Receptor Gene
2014
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.
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