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Article

Biochemical and genetic characterization of an unusual mild PEX3-related Zellweger spectrum disorder.

Molecular genetics and metabolism - 1 Aug 2017

Bjørgo Kathrine, Fjær Roar, Mørk Hanne Håberg, Ferdinandusse Sacha, Falkenberg Kim D, Waterham Hans R, Øye Ane-Marte, Sikiric Alma, Amundsen Silja Svanstrøm, Kulseth Mari Ann, Selmer Kaja

Abstract excerpt

Patients with PEX3 mutations usually present with a severe form of Zellweger spectrum disorder with death in the first year of life. Whole exome sequencing in adult siblings with intellectual disability revealed a homozygous variant in PEX3 that abolishes the normal splice site. A cryptic acceptor splice site is activated and an in-frame transcript with a deletion is produced. This transcript translates into a...

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Lipoproteins
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Peroxisomes

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

RNA Splice Sites

Sequence Deletion

Zellweger Syndrome

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PMID: 28673549
DOI: 10.1016/j.ymgme.2017.06.004

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PEX3

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