ArticleJournal of human genetics2007
A novel PEX12 mutation identified as the cause of a peroxisomal biogenesis disorder with mild clinical phenotype, mild biochemical abnormalities in fibroblasts and a mosaic catalase immunofluorescence pattern, even at 40 degrees C.
Article in Journal of human genetics, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.
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Who cites it
20 citing papers in PubMed, 1 synthesis or guideline pooled it, 38 citations in OpenAlex.
- Pooled it
- A brief history of the human liver peroxisome.Histochemistry and cell biology · 2026Review
- Early hypotonia and visual regression as presenting features of peroxisome biogenesis disorder: an Egyptian case report.BMC pediatrics · 2026Article
- Article
- A founder mutation in PEX12 among Egyptian patients in peroxisomal biogenesis disorder.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2021Article
- Mild form of Zellweger Spectrum Disorders (ZSD) due to variants inMolecular genetics and metabolism reports · 2020Article
- The peroxisomal disorder spectrum and Heimler syndrome: Deep phenotyping and review of the literature.American journal of medical genetics. Part C, Seminars in medical genetics · 2020Article
- Mild Zellweger syndrome due to a novel PEX6 mutation: correlation between clinical phenotype and in silico prediction of variant pathogenicity.Journal of applied genetics · 2017Article
- Peroxisomal protein PEX13 functions in selective autophagy.EMBO reports · 2017Article
- Article
- Peroxisome biogenesis disorders.Translational science of rare diseases · 2016Article
- Expanding the spectrum of PEX10-related peroxisomal biogenesis disorders: slowly progressive recessive ataxia.Journal of neurology · 2016Article
- Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines.Molecular genetics and metabolism · 2016Review
- Infantile Refsum Disease: Influence of Dietary Treatment on Plasma Phytanic Acid Levels.JIMD reports · 2016Article
- Zellweger spectrum disorders: clinical overview and management approach.Orphanet journal of rare diseases · 2015Review
- Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6.American journal of human genetics · 2015Article
- Article
- Lymphoblastoid cell lines for diagnosis of peroxisome biogenesis disorders.JIMD reports · 2011Article
- Rational diagnostic strategy for Zellweger syndrome spectrum patients.European journal of human genetics : EJHG · 2009Article
- Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders.Human mutation · 2009Article
Corrections and comments
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Authors and funding
7 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mutations in 12 different PEX genes can cause a generalized peroxisomal biogenesis disorder with clinical phenotypes ranging from Zellweger syndrome to infantile Refsum disease. To identify the specific PEX gene to be sequenced, complementation analysis is first performed in fibroblasts using catalase immunofluorescence. A patient with a relatively mild phenotype of infantile cholestasis, hypotonia and motor delay had elevated plasma very long-chain fatty acids and bile acid precursors, but fibroblast studies revealed normal or only mildly abnormal peroxisomal parameters and mosaic catalase immunofluorescence. This mosaicism persisted even when the incubation temperature was increased from 37 degrees C to 40 degrees C, a maneuver previously shown to abolish mosaicism by exacerbating peroxisomal dysfunction. As mosaicism precludes complementation analysis, a candidate gene approach was employed. After PEX1 sequencing was unrewarding, PEX12 sequencing revealed homozygosity for a novel c.102A>T (p.R34S) missense mutation affecting a partially conserved residue in the N-terminal region important for localization to peroxisomes. Transfection of patient fibroblasts with wild-type PEX12 cDNA confirmed that a PEX12 defect was the basis for the PBD. Homozygosity for c.102A>T was identified in a second patient of similar ethnic origin also presenting with a mild phenotype. PEX12 is a highly probable candidate gene for direct sequencing in the context of a mild clinical phenotype with mosaicism and minimally abnormal peroxisomal parameters in fibroblasts.
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