Egyptian Journal of Medical Human Genetics

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Abetalipoproteinemia: A novel mutation of microsomal triglyceride transfer protein (MTP) gene in a young Tunisian patient

Hager Barakizou, Souha Gannouni, Khalil Messaoui, Mathilde Difilippo, Agnes Sassolas, Fethi Bayoudh


Abetalipoproteinemia (ABL), or Bassen–Kornzweig syndrome, is a rare autosomal recessive disorder of lipoprotein metabolism, characterized by fat malabsorption, hypocholesterolemia, retinitis pigmentosa, progressive neuropathy and acanthocytosis. We report the case of a Tunisian male child born from consanguineous marriage. He presented at the age of 4 months with failure to thrive, greasy stool and vomiting. His clinical phenotype and serum lipid profile suggested the diagnosis of ABL. The MTP gene analysis revealed a novel homozygous mutation [c.2313-2314delinsAA (p.771Tyr>x)]. The parents were heterozygous for the same mutation.

 Keywords: Abetalipoproteinemia; apoB-containing lipoproteins; Hypocholesterolemia; MTP gene mutations
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