Molecular diagnosis of Gaucher disease in Tunisia

• Published in: Pathologie biologie (Paris) Vol. 61; no. 2; pp. 59 - 63
• Main Authors: 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
• Format: Journal Article
• Language: French
• Published: France 01.04.2013
• Subjects: Adolescent; Adult; Age of Onset; Child; Child, Preschool; DNA Mutational Analysis - methods; Female; Gaucher Disease - complications; Gaucher Disease - diagnosis; Gaucher Disease - epidemiology; Gaucher Disease - genetics; Genetic Predisposition to Disease; Genotype; Glucosylceramidase - genetics; Humans; Infant; Infant, Newborn; Male; Middle Aged; Molecular Diagnostic Techniques; Polymerase Chain Reaction - methods; Polymorphism, Restriction Fragment Length - physiology; Tunisia - epidemiology; Young Adult; Tunisia
• ISSN: 1768-3114
• DOI: 10.1016/j.patbio.2012.03.006

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.