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

Wafa Cherif; Faten Ben Rhouma; Habib Messai; Amira Mili; Moez Gribaa; Rym Kefi; Abdelkarim Ayadi; Lamia Boughamoura; Jelel Chemli; Ali Saad; Naziha Kaabachi; Mohamed Tahar Sfar; Marie-Françoise Ben Dridi; Neji Tebib; Sonia Abdelhak

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

Wafa Cherif ¹ Faten Ben Rhouma ¹ Habib Messai ¹ Amira Mili ² Moez Gribaa ³ Rym Kefi ¹ Abdelkarim Ayadi ⁴ Lamia Boughamoura ³ Jelel Chemli ⁵ Ali Saad ³ Naziha Kaabachi ⁶ Mohamed Tahar Sfar ⁴ Marie-Françoise Ben Dridi ^{7, 6} Neji Tebib ^{7, 6} Sonia Abdelhak ^{1, *}

* Corresponding author

1 LR11IPT05 - Laboratoire de Génomique Biomédicale et Oncogénétique - Biomedical Genomics and Oncogenetics Laboratory

2 Faculté de médecine de Sousse [Ibn EL Jazzar]

3 Farhat Hached University Hospital of Sousse

4 Mahdia Hosp

5 Sahloul Hospital

6 Hôpital La Rabta [Tunis]

7 Département de Pédiatrie, Unité des maladies métaboliques héréditaires

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.

Keywords : Tunisia molecular diagnosis glycogen storage disease type III founder effect W1327X mutation

Document type :

Journal articles

Domain :

Life Sciences [q-bio]

Life Sciences [q-bio] / Human health and pathology

Complete list of metadatas

https://hal-riip.archives-ouvertes.fr/pasteur-01375145
Contributor : Institut Pasteur Tunis <>
Submitted on : Tuesday, September 19, 2017 - 1:31:52 PM
Last modification on : Tuesday, April 23, 2019 - 3:04:02 PM

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

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

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