Defects in PEX 11beta cause atypical peroxisomal disease

Posted by & filed under _.

Ebberink et al. in J Med Genet (2012 49(5):307-313) reported on a patient with an atypical presentation  for peroxisomal disease  including congenital cataracts, mild intellectual disability,  hearing loss, gastrointestinal problems, and recurrent migraines.  A peroxisomal disorder was pursued because of microscopic evidence for abnormal appearing peroxisomes in fibroblasts, even though all commonly tested biochemical studies were normal and there were no molecular defects in the 13  PEX genes previously implicated in peroxisomal biogenesis disorders. This patient was found to have a homozygous nonsense mutation in PEX 11beta, leading to a complete lack of protein product, and resulting in abnormal peroxisome division. This work emphasizes the continued importance of cellular pathology and histology in the investigation of undiagnosed genetic disorders.

Hilary Vernon MD, PhD

Leave a Reply

You must be logged in to post a comment.