ArticleHuman mutation2009
Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders.
Article in Human mutation, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers.
What it found
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Who cites it
40 citing papers in PubMed, 86 citations in OpenAlex.
- Clinically isolated hearing loss as a mild phenotype of PEX26-associated peroxisomal biogenesis disorder: A case report, literature review, and in silico analysis.Molecular biology reports · 2026Review
- From lipid function to dysfunction: Very long-chain fatty acids as emerging regulators of neuroinflammatory pathways.iScience · 2026Review
- Unraveling PEX6: insights into very-long-chain fatty acid levels and peroxisome biogenesis disorders in pediatric populations.Annals of pediatric endocrinology & metabolism · 2026Article
- Article
- Using multiple modalities to confirm diagnosis in patients with suspected peroxisome biogenesis disorders.Molecular genetics and metabolism · 2025Article
- Article
- Extended Phenotype of PEX11B Pathogenic Variants: Ataxia, Tremor, and Dystonia Due to a Novel C.2T > G Variant.Movement disorders clinical practice · 2024Article
- Clinical exome analysis and targeted gene repair of the c.1354dupT variant in iPSC lines from patients with PROM1-related retinopathies exhibiting diverse phenotypes.Stem cell research & therapy · 2024Article
- Identification of a novel heterozygous variant in theTranslational pediatrics · 2024Article
- Exposure to SARS-CoV-2 and Infantile Diseases.Global medical genetics · 2023Article
- Diagnostic Odyssey in an Adult Patient with Ophthalmologic Abnormalities and Hearing Loss: Contribution of RNA-Seq to the Diagnosis of a PEX1 Deficiency.International journal of molecular sciences · 2022Article
- A subcellular cookie cutter for spatial genomics in human tissue.Analytical and bioanalytical chemistry · 2022Article
- Clinical, neuroradiological, and molecular characterization of patients with atypical Zellweger spectrum disorder caused by PEX16 mutations: a case series.Neurogenetics · 2022Article
- AAV-mediatedMolecular therapy. Methods & clinical development · 2021Article
- 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
- Article
- Identification of Genetic Modifiers of TDP-43: Inflammatory Activation of Astrocytes for Neuroinflammation.Cells · 2021Article
- A Chinese newborn with Zellweger syndrome and compound heterozygous mutations novel in theTranslational pediatrics · 2021Article
- The Nitric Oxide Donor,Frontiers in cell and developmental biology · 2021Article
- 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
Corrections and comments
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Authors and funding
5 authors at 3 institutions in 1 country.
Funding
Abstract
Peroxisome biogenesis disorders (PBD) are a heterogeneous group of autosomal recessive neurodegenerative disorders that affect multiple organ systems. Approximately 80% of PBD patients are classified in the Zellweger syndrome spectrum (PBD-ZSS). Mutations in the PEX1, PEX6, PEX10, PEX12, or PEX26 genes are found in approximately 90% of PBD-ZSS patients. Here, we sequenced the coding regions and splice junctions of these five genes in 58 PBD-ZSS cases previously subjected to targeted sequencing of a limited number of PEX gene exons. In our cohort, 71 unique sequence variants were identified, including 18 novel mutations predicted to disrupt protein function and 2 novel silent variants. We identified 4 patients who had two deleterious mutations in one PEX gene and a third deleterious mutation in a second PEX gene. For two such patients, we conducted cell fusion complementation analyses to identify the defective gene responsible for aberrant peroxisome assembly. Overall, we provide empirical data to estimate the relative fraction of disease-causing alleles that occur in the coding and splice junction sequences of these five PEX genes and the frequency of cases where mutations occur in multiple PEX genes. This information is beneficial for efforts aimed at establishing rapid and sensitive clinical diagnostics for PBD-ZSS patients and interpreting the results from these genetic tests.
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Registered trials
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