<abstract xml:lang="en" xmlns="http://www.w3.org/1999/xhtml"><p>Familial hypobetalipoproteinemia (FHBL) is a rare co-dominant genetic disorder characterized by decrease of plasma low density lipoprotein-cholesterol (LDL-c) or apolipoprotein B (Apo-B) equal to or less than the 5<sup>th</sup> percentile for the population. We describe a 48-year-old male who presented with fatty liver disease (FLD), insulin resistance (IR), obesity and hypertension. Our patient thus met the latest diagnostic criteria of the metabolic syndrome (MS) proposed by the Adult Treatment Panel and the International Diabetes Federation. However, he had very low plasma concentration of LDL-c and Apo-B. DNA sequencing showed that he and two first-degree relatives affected by obesity and mild IR were heterozygous for a single nucleotide deletion on exon 15 of the <italic>APOB</italic> gene, which was predicted to form a truncated Apo-B designated Apo B-15.56.</p></abstract>

Familial hypobetalipoproteinemia (FHBL) is a rare co-dominant genetic disorder characterized by decrease of plasma low density lipoprotein-cholesterol (LDL-c) or apolipoprotein B (Apo-B) equal to or less than the 5th percentile for the population. We describe a 48-year-old male who presented with fatty liver disease (FLD), insulin resistance (IR), obesity and hypertension. Our patient thus met the latest diagnostic criteria of the metabolic syndrome (MS) proposed by the Adult Treatment Panel and the International Diabetes Federation. However, he had very low plasma concentration of LDL-c and Apo-B. DNA sequencing showed that he and two first-degree relatives affected by obesity and mild IR were heterozygous for a single nucleotide deletion on exon 15 of the APOB gene, which was predicted to form a truncated Apo-B designated Apo B-15.56.

Novel Mutation in the <italic>Apob</italic> Gene (Apo B-15.56): A Case Report

"GC. Descovich" Atherosclerosis and Metabolic disease Research Unit, University of Bologna, Bologna, Italy

Department of Biomedical Sciences, University of Modena e Reggio Emilia, Modena, Italy

Balkan Journal of Medical Genetics

Novel Mutation in the  Gene (Apo B-15.56): A Case Report

Familial hypobetalipoproteinemia (FHBL) is a rare co-dominant genetic disorder characterized by decrease of plasma low density lipoprotein-cholesterol (LDL-c)...

Novel Mutation in the Apob Gene (Apo B-15.56): A Case Report

Data publikacji: 20 sty 2011

Zakres stron: 65 - 69

DOI: https://doi.org/10.2478/v10034-010-0029-1

Słowa kluczowe
Apolipoprotein B (Apo-B), Genetic mutation, Familial hypobetalipoproteinemia (FHBL), Metabolic Syndrome (MS)

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