title: [Molecular diagnosis of Gaucher disease in Tunisia].
abstract: 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.
authors.affiliation: Unité de recherche « exploration moléculaire des maladies orphelines d'origine génétique », institut Pasteur de Tunis, BP 74, 13, place Pasteur, Belvédère, 1002 Tunis, Tunisie. cherif_w@yahoo.fr
authors.forename: W
authors.initials: W
authors.lastname: Cherif
authors.forename: H
authors.initials: H
authors.lastname: Ben Turkia
authors.forename: F
authors.initials: F
authors.lastname: Ben Rhouma
authors.forename: I
authors.initials: I
authors.lastname: Riahi
authors.forename: J
authors.initials: J
authors.lastname: Chemli
authors.forename: O
authors.initials: O
authors.lastname: Amaral
authors.forename: M C
authors.initials: MC
authors.lastname: Sá Miranda
authors.forename: C
authors.initials: C
authors.lastname: Caillaud
authors.forename: N
authors.initials: N
authors.lastname: Kaabachi
authors.forename: N
authors.initials: N
authors.lastname: Tebib
authors.forename: S
authors.initials: S
authors.lastname: Abdelhak
authors.forename: M F
authors.initials: MF
authors.lastname: Ben Dridi
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis / Q000379:methods; D005260:Female; D005776:Gaucher Disease / Q000150:complications / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D005838:Genotype; D005962:Glucosylceramidase / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008875:Middle Aged; D025202:Molecular Diagnostic Techniques; D016133:Polymerase Chain Reaction / Q000379:methods; D012150:Polymorphism, Restriction Fragment Length / Q000502:physiology; D014416:Tunisia / Q000453:epidemiology; D055815:Young Adult
chemical_list: D005962:Glucosylceramidase