A novel PEX1 mutation in a Moroccan family with Zellweger spectrum disorders - Institut Pasteur Access content directly
Journal Articles Human Genome Variation Year : 2017

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

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.
Fichier principal
Vignette du fichier
hgv20179.pdf (778.85 Ko) Télécharger le fichier

Dates and versions

pasteur-03219646 , version 1 (06-05-2021)

Licence

Attribution - NonCommercial - NoDerivatives - CC BY 4.0

Identifiers

Cite

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⟩
32 View
26 Download

Altmetric

Share

Gmail Facebook Twitter LinkedIn More