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.

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.