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

Article scientifique 2017 Anglais

Résumé

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 PEX 1 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.

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Bousfiha, A., Bakhchane, A., Charoute, H., Riahi, Z., Snoussi, K., Rouba, H., Bonnet, C., Petit, C., Barakat, A. (2017). A novel PEX1 mutation in a Moroccan family with Zellweger spectrum disorders. https://doi.org/10.1038/hgv.2017.9

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Auteur(s)

Amale Bousfiha Amina Bakhchane Hicham Charoute Zied Riahi Khalid Snoussi Hassan Rouba Crystel Bonnet Christine Petit Abdelhamid Barakat

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