History of settlement of villages from Central Tunisia by studying families sharing a common founder Glycogenosis type III mutation

Faten Ben Rhouma; Habib Messai; Sana Hsouna; Nizar Ben Halim; Wafa Cherif; Afaf Tiar; Sihem Ben Fadhel; Majdi Nagara; Hatem Azzouz; Mohamed-Tahar Sfar; Marie-Françoise Ben Dridi; Neji Tebib; Abdelkarim Ayadi; Sonia Abdelhak; Rym Kefi

History of settlement of villages from Central Tunisia by studying families sharing a common founder Glycogenosis type III mutation

Faten Ben Rhouma ^{1, 2} Habib Messai ^{1, 2} Sana Hsouna ^{1, 2} Nizar Ben Halim ^{1, 2} Wafa Cherif ^{1, 2} Afaf Tiar ^{1, 2} Sihem Ben Fadhel ^{1, 2} Majdi Nagara ^{1, 2} Hatem Azzouz ^{3, 4} Mohamed-Tahar Sfar ⁵ Marie-Françoise Ben Dridi ^{3, 4} Neji Tebib ^{3, 4} Abdelkarim Ayadi ⁵ Sonia Abdelhak ^{1, 2} Rym Kefi ^{1, 2}

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

2 UTM - Université Tunis El Manar

3 Département de Pédiatrie, Unité des maladies métaboliques héréditaires

4 Faculté de Médecine de Tunis

5 Département de Pédiatrie

Abstract : Glycogen storage disease type III (GSD III; Cori disease; Forbes disease) is an autosomal recessive inherited metabolic disorder resulting from deficient glycogen debrancher enzyme activity in liver and muscle. In this study, we focused on a single AGL gene mutation p.W1327X in 16 Tunisian patients from rural area surrounding the region of Mahdia in Central Tunisia. This constitutes the largest pool of patients with this mutation ever described. This study was performed to trace the history of the patients' ancestries in a single region. After extraction of genomic DNA, exon 31 of AGL gene was sequenced. The patients were investigated for the hypervariable segment 1 of mitochondrial DNA and 17 Y-STR markers. We found that the p.W1327X mutation was a founder mutation in Tunisia Analysis of maternal lineages shows an admixture of autochthonous North African, sub-Saharan and a predominance of Eurasian haplogroups. Heterogeneity of maternal haplogroups indicates an ancient settlement. However, paternal gene flow was highly homogeneous and originates from the Near East. We hypothesize that the p.W1327X mutation was introduced into the Tunisian population probably by a recent migration event; then the mutation was fixed in a small region due to the high rate of consanguineous marriages and genetic drift. The screening for this mutation should be performed in priority for GSD III molecular diagnosis, for patients from the region of Mahdia and those from regions sharing the same settlement history.

Keywords : haplotype haplogroup p.W1327X Consanguinity gene flow

Document type :

Journal articles

Domain :

Life Sciences [q-bio]

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https://hal-riip.archives-ouvertes.fr/pasteur-01374986
Contributor : Institut Pasteur Tunis <>
Submitted on : Wednesday, December 28, 2016 - 10:21:37 AM
Last modification on : Tuesday, April 23, 2019 - 3:04:02 PM

History of settlement of villages from Central Tunisia by studying families sharing a common founder Glycogenosis type III mutation

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History of settlement of villages from Central Tunisia by studying families sharing a common founder Glycogenosis type III mutation

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