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Mutation analysis ofPEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype
Open accessAbstract
PEX7 encodes the cytosolic receptor for the set of peroxisomal matrix enzymes targeted to the organelle by the peroxisome targeting signal 2 (PTS2). Mutations in PEX7 cause rhizomelic chondrodysplasia punctata (RCDP), a distinct peroxisome biogenesis disorder. In previous work we described three novel PEX7 mutant alleles, including one, L292X, with a high frequency due to a founder effect. We have now extended our analysis to 60 RCDP probands and identified a total of 24 PEX7 alleles, accounting for 95% of the mutant PEX7 genes in our sample. Of these, 50% are L292X, 13% are IVS9+1G>C, and the remainder are mostly private. IVS9+1G>C occurs on at least three different haplotypes and thus appears to result from recurrent mutation. The phenotypic spectrum of RCDP is broader than commonly recognized and includes minimally affected individuals at the mild end of the spectrum. To relate PEX7 genotype and phenotype, we evaluated the consequence of the disease mutation on PEX7 RNA by Northern analysis and RT/PCR. We evaluated the function of the encoded Pex7 protein (Pex7p) by expressing selected alleles in fibroblasts from RCDP patients and assaying their ability to restore import of a PTS2 marker protein. We find that residual activity of mutant Pex7p and reduced amounts of normal Pex7p are associated with milder and variant phenotypes.
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“The severity of the disease varies remarkably, depending strongly on the residual activity of the affected enzyme and, thus, the level of plasmalogens [188–191].”
From Peroxisomes in brain development and function (2016) · cites this paper as [190]
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Metadata
- Authors
- Braverman, N., Chen, L., Lin, P., Obie, C., Steel, G., Douglas, P., Chakraborty, P. K., Clarke, J. T. R., Boneh, A., Moser, A., Moser, H., & Valle, D.
- Affiliations
- Johns Hopkins University (US)
- Howard Hughes Medical Institute (US)
- Hospital for Sick Children (CA)
- Royal Children's Hospital (AU)
- Kennedy Krieger Institute (US)
- Corresponding author
- Braverman, Nancy
- Venue
- Human Mutation
- Publisher
- Hindawi Limited
- Published
- 2002-09-24
- Volume
- 20
- Issue
- 4
- Pages
- 284-297
- ISSN
- 1059-7794 (ISSN-L)
- 1098-1004
- OpenAlex
- W1987179081
- Cited by
- 134
- References
- 52
- Citations by year
- 2026: 2 · 2025: 5 · 2024: 2 · 2023: 4 · 2022: 5 · 2021: 8 · 2020: 2 · 2019: 7 · 2018: 4 · 2017: 4 · 2016: 5 · 2015: 8 · 2014: 11 · 2013: 11 · 2012: 10
- FWCI
- 3.50
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Human Mutation (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Johns Hopkins University
- National Institutes of Health
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (1RO1HD39747, P01HD10981, P01HD010981, R01HD039747)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Health Sciences › Medicine › Genetics (clinical) › Lysosomal Storage Disorders Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- PEX7, rhizomelic chondrodysplasia punctata, peroxisome biogenesis disorders, founder effect, genotype-phenotype correlation, peroxisomal matrix protein import, haplotypes
- MeSH terms
- Peroxisomal Targeting Signal 2 Receptor, Adolescent, Amino Acid Sequence, Child, Child, Preschool, DNA Mutational Analysis, Genotype, Humans, Male, Middle Aged, Molecular Sequence Data, Mutation, Phenotype, Receptors, Cytoplasmic and Nuclear, Founder Effect, Chondrodysplasia Punctata, Rhizomelic, Amino Acid Substitution, Protein Structure, Quaternary
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