Background and aims Pyridoxine -dependent epilepsy (PDE) is a rare autosomal recessive disease that manifests at birth by subintrant seizures and requires lifelong treatment with vitamin B6. Mutations in the gene encoding ALDH7A1 have been reported in most patients.
Our goal was to seek a possible mutation in infants suspected of PDE monitored in the neonatal unit of Sfax (Tunisia).
Methods A genetic study looking ALDH7A1 mutation was performed in two groups: a first group of 40 people consisting of 12 children suspected to have pyridoxine – dependent epilepsy and all their family members; a second group of 50 random people in the general population and without any case of epliepsy.
Results Molecular analysis in the first group showed the same mutation in gene ALDH7A1 in the 12 children having suspect PDE: a new transition T in C. the analysis of this variation showed it creates a restriction site DraIl. All parents of these children had the mutation in the heterozygous state. No mutation was identified on the ALDH7A1 gene in the control group.
The reconstruction of the genotype of all affected family members, said that all holders of c.1364T > C mutation had the same allele, indicating a common ancestor of all these families.
Conclusion The diagnosis has nowadays become easier in our region through genetic study. The discovery of a founder effect in a rare disease is essential for genetic diagnosis and genetic counselling of families affected by PDE in Tunisia.