title: [Mutation spectrum of Gaucher disease in Tunisia: high frequency of N370S/Rec NciI compound heterozygous].
abstract: Gaucher disease is the most common lysosomal storage disorder, it results from the inherited deficiency of the enzyme glucocerebrosidase, the accumulation of its substrate causes many clinical manifestations. Since the discovery of GBA gene, more than 200 different mutations have been identified, but only handful mutations are recurrent (N370S, L444P and c.84insG). In order to determine the mutation spectrum in Tunisia, we performed recurrent mutation screening in ten unrelated Tunisian children with Gaucher disease. Screening of recurrent mutation by PCR/RFLP and direct sequencing, has shown that N370S is the most frequent mutation (6/20 mutant alleles, 30%), followed by recombinant allele (RecNciI) which is found in five patients (5/20 mutant alleles, 25%), the L444P mutation represent 20% (4/20 mutant alleles). Our findings revealed that five among ten studied patients, were compound heterozygous N370S/RecNciI (50%). The screening of these mutations provides a simple tool for molecular diagnosis of Gaucher disease in Tunisian patients and allows also genetic counselling for their family members.
authors.affiliation: Unité 26/04 d'Exploration Moléculaire des Maladies Orphelines d'Origine Génétique, Institut Pasteur de Tunis, Tunisie.
authors.forename: W
authors.initials: W
authors.lastname: Cherif
authors.forename: H
authors.initials: H
authors.lastname: Ben Turkia
authors.forename: N
authors.initials: N
authors.lastname: Tebib
authors.forename: O
authors.initials: O
authors.lastname: Amaral
authors.forename: F
authors.initials: F
authors.lastname: Ben Rhouma
authors.forename: M S
authors.initials: MS
authors.lastname: Abdelmoula
authors.forename: H
authors.initials: H
authors.lastname: Azzouz
authors.forename: C
authors.initials: C
authors.lastname: Caillaud
authors.forename: M-C
authors.initials: MC
authors.lastname: Sà Miranda
authors.forename: S
authors.initials: S
authors.lastname: Abdelhak
authors.forename: M-F
authors.initials: MF
authors.lastname: Ben Dridi
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D004252:DNA Mutational Analysis; D004591:Electrophoresis, Polyacrylamide Gel; D005091:Exons / Q000235:genetics; D005260:Female; D005776:Gaucher Disease / Q000453:epidemiology / Q000235:genetics; D005787:Gene Frequency / Q000235:genetics*; D006580:Genetic Carrier Screening; D005817:Genetic Counseling; D005820:Genetic Testing; D005828:Genetics, Population; D006579:Heterozygote; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D014416:Tunisia / Q000453:epidemiology