A novel defect of peroxisome division due to a homozygous non-sense mutation in thePEX11βgene

Abstract

This novel isolated defect in peroxisome division expands the clinical and genetic spectrum of peroxisomal disorders and indicates that peroxisomal defects exist, which cannot be diagnosed by standard laboratory investigations.

Lipidomic analysis of fibroblasts from Zellweger spectrum disorder patients identifies disease-specific phospholipid ratios

“…In recent years, an increasing number of patients have been identified at a later age, who did not show clear clinical symptoms and/or the typical biochemical abnormalities indicating a peroxisomal disorder, which implies that some patients with a very mild phenotype may be difficult to diagnose (9)(10)(11)(12)(13). Hence, the identification of additional or more sensitive biomarkers for peroxisomal disorders would benefit the diagnosis of mildly affected ZSD patients and patients at an early stage of life.…”

Evaluation of C26:0‐lysophosphatidylcholine and C26:0‐carnitine as diagnostic markers for Zellweger spectrum disorders

“…Patients can present with a variety of symptoms and the severity ranges from death in infancy to adults with an isolated vision and hearing deficit (Klouwer et al 2015). With an estimated incidence of 1:50.000 (Gould et al 2001) ZSDs are considered rare, however, an increasing number of patients with a relatively mild phenotype have been identified in recent years (Régal et al 2010;Ebberink et al 2010;Sevin et al 2011;Mignarri et al 2012;Ebberink et al 2012;Ratbi et al 2015;Renaud et al 2016;Ventura et al 2016).…”

Clinical utility gene card for: Zellweger syndrome spectrum

“…This patient presented with congenital cataracts, mild intellectual disability, progressive hearing loss, sensory nerve involvement, gastrointestinal problems, as well as recurrent migraine-like episodes. 9 All peroxisome biogenesis disorders leading to ZSS are inherited in a autosomal-recessive manner and can be caused by mutations in any of the 13 human PEX genes mentioned above (see 1.3). 10 PEX genes encode peroxins.…”