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New disease loci
Short report
First PEX11β patient extends spectrum of peroxisomal biogenesis disorder phenotypes
  1. S Thoms,
  2. Jutta Gärtner
  1. Department of Pediatrics and Pediatric Neurology, University Medical Center Göttingen, Georg August University Göttingen, Göttingen, Germany
  1. Correspondence to Dr S Thoms, Department of Pediatrics and Pediatric Neurology, University Medical Center Göttingen, University of Göttingen, Robert Koch Strasse 40, 37075 Göttingen, Germany; sven.thoms{at}med.uni-goettingen.de

Abstract

Among the human PEX genes associated with peroxisome biogenesis disorders, only the PEX11 family genes had not previously been associated with human disease. A new study identifies the first patient with a mutation in PEX11β. The patient presents with symptoms atypical for peroxisome biogenesis disorders. Peroxisomes in cells derived from this patient appear enlarged and undivided, complying with the role of PEX11 proteins in peroxisome proliferation and division. These new findings widen the spectrum of clinical and cellular phenotypes of diseases associated with defective peroxisome formation.

  • Peroxisome biogenesis disorders
  • peroxisome biogenesis
  • PEX11β
  • PEX11-type peroxisome proliferator
  • Zellweger syndrome spectrum
  • endoplasmic reticulum
  • dysferlin
  • metformin
  • neurology

https://doi.org/10.1136/jmedgenet-2012-100899

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    Footnotes

    • Funding This work was supported by the Deutscher Akademischer Austauschdienst (DAAD) grant number 50750838, and by the Deutsche Forschungsgemeinschaft (DFG) grant numbers GA 354/7-1 and GA 354/8-1.

    • Competing interests None.

    • Provenance and peer review Not commissioned; externally peer reviewed.

    • Data sharing statement This study is not associated with additional unpublished data.