A novel PEX1 mutation in a Moroccan family with Zellweger spectrum disorders

Amale Bousfiha (1) , Amina Bakhchane (1) , Hicham Charoute (1) , Zied Riahi (2) , Khalid Snoussi (1) , Hassan Rouba (1) , Crystel Bonnet (2) , Christine Petit (3, 2, 4) , Abdelhamid Barakat (1)

1 Institut Pasteur du Maroc
2 Institut de la Vision
3 Génétique et Physiologie de l'Audition
4 Collège de France - Chaire Génétique et physiologie cellulaire

Mutations in the PEX1 gene are usually associated with recessive inherited diseases including Zellweger spectrum disorders. In this work, we identified a new pathogenic missense homozygous PEX1 mutation (p.Leu1026Pro, c.3077T>C) in two Moroccan syndromic deaf siblings from consanguineous parents. This variation is located in the P-loop containing nucleoside triphosphate hydrolase of protein domain and probably causes an alteration in the hydrolysis of ATP.

Domains: Life Sciences [q-bio]

Amale Bousfiha, Amina Bakhchane, Hicham Charoute, Zied Riahi, Khalid Snoussi, et al.. A novel PEX1 mutation in a Moroccan family with Zellweger spectrum disorders. Human Genome Variation, 2017, 4 (1), pp.17009. ⟨10.1038/hgv.2017.9⟩. ⟨pasteur-03219646⟩