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

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

doi:10.1038/hgv.2017.9

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

Hum Genome Var. 2017 Apr 13:4:17009. doi: 10.1038/hgv.2017.9. eCollection 2017.

Authors

Amale Bousfiha¹, Amina Bakhchane¹, Hicham Charoute¹, Zied Riahi^{2

3}, Khalid Snoussi¹, Hassan Rouba¹, Crystel Bonnet^{2

3}, Christine Petit^{2

3

4

5}, Abdelhamid Barakat¹

Affiliations

¹ Human Molecular Genetics Laboratory, Institut Pasteur du Maroc, Casablanca, Morocco.
² INSERM UMRS1120, Institut de la Vision, Paris, France.
³ UPMC-Sorbonnes Universités Paris VI, Paris, France.
⁴ Unité de Génétique et Physiologie de l'Audition, Institut Pasteur, Paris, France.
⁵ Collège de France, Paris, France.

Abstract

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.