title: High frequency of W1327X mutation in glycogen storage disease type III patients from central Tunisia.
abstract: Glycogen storage disease type III (GSD III) is an autosomal recessive disorder caused by the deficiency of glycogen debranching enzyme (AGL). It is characterized by hepatomegaly, progressive myopathy, cardiomyopathy and fasting hypoglycemia. Several mutations in AGL gene have been described in different populations. The W1327X mutation was reported in one Tunisian patient resident in Italy. We looked in this report to determine the frequency of W1327X mutation among Tunisian patients. The W1327X mutation was screening in 26 GSD III patients originated from various geographic locations in Tunisia. The sequence analysis revealed that among nine patients carried the W1327X mutation. Eight of them were from six unrelated families and they were originated from Mahdia (centre of Tunisia) suggesting the existence of a founder effect in this region. Taking into account historical migratory waves, screening for this mutation should be performed in priority for molecular diagnosis confirmation of GSD III in North African populations.
authors.affiliation: Laboratory of Biomedical Genomic and Oncogenetic, Pasteur Institute of Tunis, Tunisia.
authors.forename: Wafa
authors.initials: W
authors.lastname: Cherif
authors.forename: Faten
authors.initials: F
authors.lastname: Ben Rhouma
authors.forename: Habib
authors.initials: H
authors.lastname: Messai
authors.forename: Amira
authors.initials: A
authors.lastname: Mili
authors.forename: Moez
authors.initials: M
authors.lastname: Gribaa
authors.forename: Rym
authors.initials: R
authors.lastname: Kefi
authors.forename: Abdelkarim
authors.initials: A
authors.lastname: Ayadi
authors.forename: Lamia
authors.initials: L
authors.lastname: Boughamoura
authors.forename: Jelel
authors.initials: J
authors.lastname: Chemli
authors.forename: Ali
authors.initials: A
authors.lastname: Saad
authors.forename: Naziha
authors.initials: N
authors.lastname: Kaabachi
authors.forename: Mohamed Tahar
authors.initials: MT
authors.lastname: Sfar
authors.forename: Marie-Françoise
authors.initials: MF
authors.lastname: Ben Dridi
authors.forename: Neji
authors.initials: N
authors.lastname: Tebib
authors.forename: Sonia
authors.initials: S
authors.lastname: Abdelhak
mesh_terms: D009202:Cardiomyopathies / Q000235:genetics; D005260:Female; D018703:Founder Effect; D005838:Genotype; D006004:Glycogen Debranching Enzyme System / Q000172:deficiency / Q000235:genetics*; D006010:Glycogen Storage Disease Type III / Q000201:enzymology / Q000453:epidemiology / Q000235:genetics*; D006529:Hepatomegaly / Q000235:genetics; D006801:Humans; D008297:Male; D009135:Muscular Diseases / Q000235:genetics; D009154:Mutation; D010641:Phenotype; D014364:Tryptophan; D014416:Tunisia / Q000453:epidemiology
chemical_list: D006004:Glycogen Debranching Enzyme System; D014364:Tryptophan; C030563:amylo-1,6-glucosidase