Two polymorphic mutations (c2331A&gt;C and IVS11+142insAGAAATTTTAAGTCTT) in the human peroxin 1 gene (<i>PEX1</i>)

Preuss, N.; Gärtner, Jutta

doi:10.1002/humu.40

Cited by 2 publications

(2 citation statements)

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“…During the course of our mutation analyses work, we also identified two polymorphic synonymous mutations in the PEX1 gene. These polymorphisms have already been reported in part (9,20). The first polymorphism lies within exon 14.…”

Section: Genotype-phenotype Correlation In Zellweger Spectrummentioning

confidence: 60%

“…PEX1 sequence analyses on either side of these two most common patient mutations did not reveal motifs characteristic of hot spots. Two polymorphisms have been identified in the PEX1 gene, G777G and a 16 bp insertion variation in intron 11 (9,20). Comprehensive haplotype analyses revealed that there is a distinct relationship between the two most common PEX1 mutations, G843D and c.2097-2098insT, and these polymorphisms.…”

Section: Discussionmentioning

confidence: 99%

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PEX1 Mutations in Complementation Group 1 of Zellweger Spectrum Patients Correlate with Severity of Disease

et al. 2002

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Section: Genotype-phenotype Correlation In Zellweger Spectrummentioning

confidence: 60%

Section: Discussionmentioning

confidence: 99%

PEX1 Mutations in Complementation Group 1 of Zellweger Spectrum Patients Correlate with Severity of Disease

et al. 2002

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PEX1mutations in the Zellweger spectrum of the peroxisome biogenesis disorders

2005

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Diseases of the Zellweger spectrum represent a major subgroup of the peroxisome biogenesis disorders, a group of autosomal-recessive diseases that are characterized by widespread tissue pathology, including neurodegeneration. The Zellweger spectrum represents a clinical continuum, with Zellweger syndrome (ZS) having the most severe phenotype, and neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) having progressively milder phenotypes. Mutations in the PEX1 gene, which encodes a 143-kDa AAA ATPase protein required for peroxisome biogenesis, are the most common cause of the Zellweger spectrum diseases. The PEX1 mutations identified to date comprise insertions, deletions, nonsense, missense, and splice site mutations. Mutations that produce premature truncation codons (PTCs) are distributed throughout the PEX1 gene, whereas the majority of missense mutations segregate with the two essential AAA domains of the PEX1 protein. Severity at the two ends of the Zellweger spectrum correlates broadly with mutation type and impact (i.e., the severe ZS correlates with PTCs on both alleles, and the milder phenotypes correlate with missense mutations), but exceptions to these general correlations exist. This article provides an overview of the currently known PEX1 mutations, and includes, when necessary, revised mutation nomenclature and genotype-phenotype correlations that may be useful for clinical diagnosis.

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Two polymorphic mutations (c2331A>C and IVS11+142insAGAAATTTTAAGTCTT) in the human peroxin 1 gene (PEX1)

Cited by 2 publications

References 3 publications

PEX1 Mutations in Complementation Group 1 of Zellweger Spectrum Patients Correlate with Severity of Disease

PEX1 Mutations in Complementation Group 1 of Zellweger Spectrum Patients Correlate with Severity of Disease

PEX1mutations in the Zellweger spectrum of the peroxisome biogenesis disorders

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