Molecular characterization of Tunisian families with abetalipoproteinemia and identification of a novel mutation in MTTP gene.

ABSTRACT:

Background

Abetalipoproteinemia (ABL; OMIM 200100) is a rare monogenic disorder of lipid metabolism characterized by reduced plasma levels of total cholesterol (TC), low density lipoprotein-cholesterol (LDL-C) and almost complete absence of apolipoprotein B (apoB). ABL results from genetic deficiency in microsomal triglyceride transfer protein (MTP; OMIM 157147). In the present study we investigated two unrelated Tunisian patients, born from consanguineous marriages, with severe deficiency of plasma low-density lipoprotein (LDL) and apo B.

Methods

Intestinal biopsies were performed and The MTTP gene was amplified by Polymerase chain reaction then directly sequenced in patients presenting chronic diarrhea and retarded growth.

Results

First proband was homozygous for a

SUBMITTER: Najah M 

PROVIDER: S-EPMC3632489 | biostudies-literature | 2013 Apr

REPOSITORIES: biostudies-literature