High frequency of W1327X mutation in glycogen storage disease type III patients from central Tunisia

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 diffe...

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Published inAnnales de biologie clinique (Paris) Vol. 70; no. 6; p. 648
Main Authors Cherif, Wafa, Ben Rhouma, Faten, Messai, Habib, Mili, Amira, Gribaa, Moez, Kefi, Rym, Ayadi, Abdelkarim, Boughamoura, Lamia, Chemli, Jelel, Saad, Ali, Kaabachi, Naziha, Sfar, Mohamed Tahar, Ben Dridi, Marie-Françoise, Tebib, Neji, Abdelhak, Sonia
Format Journal Article
LanguageEnglish
Published France 01.11.2012
Subjects
Cardiomyopathies - genetics
Female
Founder Effect
Genotype
Glycogen Debranching Enzyme System - deficiency
Glycogen Debranching Enzyme System - genetics
Glycogen Storage Disease Type III - enzymology
Glycogen Storage Disease Type III - epidemiology
Glycogen Storage Disease Type III - genetics
Hepatomegaly - genetics
Humans
Male
Muscular Diseases - genetics
Mutation
Phenotype
Tryptophan
Tunisia - epidemiology
Tunisia
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Summary: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.
ISSN:1950-6112
DOI:10.1684/abc.2012.0766