ArticleAmerican journal of human genetics2002
Mutational spectrum in the PEX7 gene and functional analysis of mutant alleles in 78 patients with rhizomelic chondrodysplasia punctata type 1.
Article in American journal of human genetics, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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Who cites it
27 citing papers in PubMed, 107 citations in OpenAlex.
- Polyunsaturated fatty acid metabolism in the retinal pigment epithelium and its association with outer retinal disease.Mammalian genome : official journal of the International Mammalian Genome Society · 2026Review
- Spectrum of genetic alterations in patients with peroxisome biogenesis defects in the Iranian population: a case series study.BMC medical genomics · 2025Article
- Rapid-Onset Obsessive-Compulsive Disorder With Hallucinations in a Post-seizure Four-Year-Old Male.Cureus · 2024Article
- Review
- Antenatal ultrasonographic diagnosis of rhizomelic chondrodysplasia punctata.Journal of ultrasound · 2023Article
- AFrontiers in cell and developmental biology · 2022Article
- Zfhx4 regulates endochondral ossification as the transcriptional platform of Osterix in mice.Communications biology · 2021Article
- Ataluren-Promising Therapeutic Premature Termination Codon Readthrough Frontrunner.Pharmaceuticals (Basel, Switzerland) · 2021Review
- Genetic epidemiology approach to estimating birth incidence and current disease prevalence for rhizomelic chondrodysplasia punctata.Orphanet journal of rare diseases · 2021Article
- Comprehensive Exonic Sequencing of Known Ataxia Genes in Episodic Ataxia.Biomedicines · 2020Article
- From peroxisomal disorders to common neurodegenerative diseases - the role of ether phospholipids in the nervous system.FEBS letters · 2017Review
- Peroxisomal ACBD4 interacts with VAPB and promotes ER-peroxisome associations.Cell cycle (Georgetown, Tex.) · 2017Article
- Peroxisome biogenesis disorders.Translational science of rare diseases · 2016Article
- Peroxisomes in brain development and function.Biochimica et biophysica acta · 2016Review
- Homeostasis of phospholipids - The level of phosphatidylethanolamine tightly adapts to changes in ethanolamine plasmalogens.Biochimica et biophysica acta · 2015Article
- Plasmalogens and fatty alcohols in rhizomelic chondrodysplasia punctata and Sjögren-Larsson syndrome.Journal of inherited metabolic disease · 2015Review
- Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1.Case reports in genetics · 2015Article
- A peroxisomal disorder of severe intellectual disability, epilepsy, and cataracts due to fatty acyl-CoA reductase 1 deficiency.American journal of human genetics · 2014Article
- A PEX7-centered perspective on the peroxisomal targeting signal type 2-mediated protein import pathway.Molecular and cellular biology · 2014Article
- Peripheral nervous system plasmalogens regulate Schwann cell differentiation and myelination.The Journal of clinical investigation · 2014Article
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Authors and funding
9 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Rhizomelic chondrodysplasia punctata (RCDP) is a genetically heterogeneous, autosomal recessive disorder of peroxisomal metabolism that is clinically characterized by symmetrical shortening of the proximal long bones, cataracts, periarticular calcifications, multiple joint contractures, and psychomotor retardation. Most patients with RCDP have mutations in the PEX7 gene encoding peroxin 7, the cytosolic PTS2-receptor protein required for targeting a subset of enzymes to peroxisomes. These enzymes are deficient in cells of patients with RCDP, because of their mislocalization to the cytoplasm. We report the mutational spectrum in the PEX7 gene of 78 patients (including five pairs of sibs) clinically and biochemically diagnosed with RCDP type I. We found 22 different mutations, including 18 novel ones. Furthermore, we show by functional analysis that disease severity correlates with PEX7 allele activity: expression of eight different alleles from patients with severe RCDP failed to restore the targeting defect in RCDP fibroblasts, whereas two alleles found only in patients with mild disease complemented the targeting defect upon overexpression. Surprisingly, one of the mild alleles comprises a duplication of nucleotides 45-52, which is predicted to lead to a frameshift at codon 17 and an absence of functional peroxin 7. The ability of this allele to complement the targeting defect in RCDP cells suggests that frame restoration occurs, resulting in full-length functional peroxin 7, which leads to amelioration of the predicted severe phenotype. This was confirmed in vitro by expression of the eight-nucleotide duplication-containing sequence fused in different reading frames to the coding sequence of firefly luciferase in COS cells.
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