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

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

doi:https://doi.org/10.1016/j.ymgme.2017.06.004

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

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

Research output: Contribution to journal › Article › Academic › peer-review

11 Citations (Scopus)

Abstract

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 protein with residual activity explaining the relatively mild peroxisomal abnormalities and clinical phenotype. (C) 2017 Elsevier Inc All rights reserved

Original language	English
Pages (from-to)	325-328
Journal	Molecular Genetics and Metabolism
Volume	121
Issue number	4
Early online date	2017
DOIs	https://doi.org/10.1016/j.ymgme.2017.06.004
Publication status	Published - 2017

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https://doi.org/10.1016/j.ymgme.2017.06.004

Cite this

Bjørgo, K., Fjær, R., Mørk, H. H., Ferdinandusse, S., Falkenberg, K. D., Waterham, H. R., Øye, A.-M., Sikiric, A., Amundsen, S. S., Kulseth, M. A., & Selmer, K. (2017). Biochemical and genetic characterization of an unusual mild PEX3-related Zellweger spectrum disorder. Molecular Genetics and Metabolism, 121(4), 325-328. https://doi.org/10.1016/j.ymgme.2017.06.004

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title = "Biochemical and genetic characterization of an unusual mild PEX3-related Zellweger spectrum disorder",

abstract = "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 protein with residual activity explaining the relatively mild peroxisomal abnormalities and clinical phenotype. (C) 2017 Elsevier Inc All rights reserved",

author = "Kathrine Bj{\o}rgo and Roar Fj{\ae}r and M{\o}rk, {Hanne H{\aa}berg} and Sacha Ferdinandusse and Falkenberg, {Kim D.} and Waterham, {Hans R.} and Ane-Marte {\O}ye and Alma Sikiric and Amundsen, {Silja Svanstr{\o}m} and Kulseth, {Mari Ann} and Kaja Selmer",

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language = "English",

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T1 - Biochemical and genetic characterization of an unusual mild PEX3-related Zellweger spectrum disorder

AU - Bjørgo, Kathrine

AU - Fjær, Roar

AU - Mørk, Hanne Håberg

AU - Ferdinandusse, Sacha

AU - Falkenberg, Kim D.

AU - Waterham, Hans R.

AU - Øye, Ane-Marte

AU - Sikiric, Alma

AU - Amundsen, Silja Svanstrøm

AU - Kulseth, Mari Ann

AU - Selmer, Kaja

PY - 2017

Y1 - 2017

N2 - 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 protein with residual activity explaining the relatively mild peroxisomal abnormalities and clinical phenotype. (C) 2017 Elsevier Inc All rights reserved

AB - 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 protein with residual activity explaining the relatively mild peroxisomal abnormalities and clinical phenotype. (C) 2017 Elsevier Inc All rights reserved

U2 - https://doi.org/10.1016/j.ymgme.2017.06.004

DO - https://doi.org/10.1016/j.ymgme.2017.06.004

M3 - Article

C2 - 28673549

SN - 1096-7192

VL - 121

SP - 325

EP - 328

JO - Molecular Genetics and Metabolism

JF - Molecular Genetics and Metabolism

IS - 4

ER -