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

Mohamed Najah1*, Sarraj Mohamed Youssef1, Hrira Mohamed Yahia2, Slimani Afef1, Jelassi Awatef1, Hammami Saber3, Najjar Mohamed Fadhel4, Agnès Sassolas5 and Slimane Mohamed Naceur1*

Author Affiliations

1 Research Unit: UR 12ES09 Dyslipidemia and Atherogenesis, Faculty of Medicine, Monastir, Tunisia

2 Research Unit 07/UR/06, Faculty of Pharmacy, Monastir, Tunisia

3 Faculty of Medicine, Monastir, Pediatric Service, University Hospital of Monastir, Monastir, Tunisia

4 Laboratory of Biochemistry and Toxicology of the University Hospital of Monastir, Monastir, Tunisia

5 NSERM U1060 CarMeN, University of Lyon, Lyon, France

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Diagnostic Pathology 2013, 8:54  doi:10.1186/1746-1596-8-54

Published: 4 April 2013

Additional files

Additional file 1:

Analysis of the MTTP gene. The chromatogram show the partial sequence of exon 18 in the proband II.1 (family E). In above, the normal MTTP gene sequence (reference NM_000253). In the below, mutant sequence show the homozygous state of the novel nucleotide deletion (c. 2611delC) and the frameshift in the mRNA. The predicted translation product of the mutant MTTP gene is a non functional protein of 898 amino acids (p.H871I fsX29) lacking the last 23 functional amino-acids.

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