NOVEL MUTATION IN THE APOB GENE (Apo B-15.56):
A CASE REPORT
Bove M1, Carnevali L, Cicero AFG, Tarugi P, Gaddi AV
*Corresponding Author: Marilisa Bove, “GC. Descovich” Atherosclerosis and Metabolic Disease
Research Unit, Internal Medicine, Aging & Kidney Diseases Department, University of Bologna,
Policlinico S.Orsola, Malpighi, Via Massarenti 9, 40138 Bologna, Italy; Tel./FAX: +39-(0)516-363-262;
E-mail: marilisa.bove@aosp.bo.it
page: 65
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Abstract
Familial hypobetalipoproteinemia (FHBL) is
a rare co-dominant genetic disorder characterized
by decrease of plasma low density lipoproteincholesterol
(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.
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