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Journal Articles Human Genome Variation Year : 2017

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

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

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Attribution - NonCommercial - NoDerivatives - CC BY 4.0

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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⟩
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