Cherif W, Ben Turkia H, Ben Rhouma F, Riahi I, Chemli J, Amaral O, Sá Miranda M C, Caillaud C, Kaabachi N, Tebib N, Abdelhak S, Ben Dridi M F
Unité de recherche « exploration moléculaire des maladies orphelines d'origine génétique », institut Pasteur de Tunis, BP 74, 13, place Pasteur, Belvédère, 1002 Tunis, Tunisie.
Pathol Biol (Paris). 2013 Apr;61(2):59-63. doi: 10.1016/j.patbio.2012.03.006. Epub 2012 Apr 27.
Gaucher disease is a lysosomal storage disorder caused by a deficiency of the enzyme acid β-glucosidase. In order to determine the mutation spectrum in Tunisia, we performed recurrent mutation screening in 30 Tunisian patients with Gaucher disease. Screening of recurrent mutation by PCR/RFLP and direct sequencing had shown that N370S was the most frequent mutation (22/50 mutant alleles, 44%), followed by L444P mutation, which is found in 16% (8/50 mutant alleles). The recombinant allele (RecNciI) represented 14%. Our findings revealed that the genotype N370S/RecNciI was mosst frequent in patients with childhood onset and it was associated with severe visceral involvement. The screening of these three mutations provided a simple tool for molecular diagnosis of Gaucher disease in Tunisian patients and allowed also genetic counselling for their family members.
