First PEX11β patient extends spectrum of peroxisomal biogenesis disorder phenotypes

S Thoms; Jutta Gärtner

doi:10.1136/jmedgenet-2012-100899

First PEX11β patient extends spectrum of peroxisomal biogenesis disorder phenotypes

J Med Genet. 2012 May;49(5):314-6. doi: 10.1136/jmedgenet-2012-100899.

Authors

S Thoms¹, Jutta Gärtner

Affiliation

¹ Department of Pediatrics and Pediatric Neurology, University Medical Center Göttingen, Georg August University Göttingen, Göttingen, Germany. sven.thoms@med.uni-goettingen.de

PMID: 22581969
DOI: 10.1136/jmedgenet-2012-100899

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Adult
Animals
Disease Models, Animal
Humans
Male
Membrane Proteins / genetics*
Mice
Mutation
Peroxisomal Disorders / genetics*
Phenotype

Substances

Membrane Proteins
PEX11B protein, human

Supplementary concepts

Peroxisome biogenesis disorders