Homozygous Variegate Porphyria: 20 y Follow-Up and Characterization of Molecular Defect
The long-term follow-up of a homozygous variegate porphyria patient revealed severe photosensitivity accompanied by mild sensory neuropathy and IgA nephropathy. A 35T to C transition in exon 2 (I12T) and a 767C to G transversion in exon 7 (P256R) of the protoporphyrinogen oxidase gene were identifie...
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| Veröffentlicht in: | Journal of investigative dermatology 2001-04, Vol.116 (4), p.610-613 |
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| container_title | Journal of investigative dermatology |
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| creator | Kauppinen, Raili von, Mikael Fraunberg, und zu Ahola, Helena Mustajoki, Pertti Timonen, Kaisa Laitinen, Eila Tenhunen, Raimo Taketani, Shigeru |
| description | The long-term follow-up of a homozygous variegate porphyria patient revealed severe photosensitivity accompanied by mild sensory neuropathy and IgA nephropathy. A 35T to C transition in exon 2 (I12T) and a 767C to G transversion in exon 7 (P256R) of the protoporphyrinogen oxidase gene were identified from both alleles of the patient's cDNA and genomic DNA samples. Both prokaryotic and eukaryotic expression studies showed that the first mutation in the evolutionary conserved region resulted in a decrease in the protoporphyrinogen oxidase activity in contrast to the polymorphic substitution in exon 7, which affected the function of the enzyme assayed in Escherichia coli but not COS-1 cells. |
| doi_str_mv | 10.1046/j.1523-1747.2001.01293.x |
| format | Article |
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A 35T to C transition in exon 2 (I12T) and a 767C to G transversion in exon 7 (P256R) of the protoporphyrinogen oxidase gene were identified from both alleles of the patient's cDNA and genomic DNA samples. Both prokaryotic and eukaryotic expression studies showed that the first mutation in the evolutionary conserved region resulted in a decrease in the protoporphyrinogen oxidase activity in contrast to the polymorphic substitution in exon 7, which affected the function of the enzyme assayed in Escherichia coli but not COS-1 cells.</description><identifier>ISSN: 0022-202X</identifier><identifier>EISSN: 1523-1747</identifier><identifier>DOI: 10.1046/j.1523-1747.2001.01293.x</identifier><identifier>PMID: 11286631</identifier><identifier>CODEN: JIDEAE</identifier><language>eng</language><publisher>Danvers, MA: Elsevier Inc</publisher><subject>Base Sequence - genetics ; Biological and medical sciences ; Flavoproteins ; Follow-Up Studies ; Genetic Variation ; Homozygote ; Humans ; Male ; Medical sciences ; Metabolic diseases ; Mitochondrial Proteins ; Molecular Sequence Data ; mutation ; Other metabolic disorders ; Oxidoreductases - genetics ; Oxidoreductases Acting on CH-CH Group Donors ; Pedigree ; Pigments (porphyrias, hyperbilirubinemias...) ; porphyria ; Porphyrias - genetics ; Porphyrias - pathology ; Porphyrias - physiopathology ; Protoporphyrinogen Oxidase ; variegate porphyria</subject><ispartof>Journal of investigative dermatology, 2001-04, Vol.116 (4), p.610-613</ispartof><rights>2001 The Society for Investigative Dermatology, Inc</rights><rights>2001 INIST-CNRS</rights><rights>Copyright Nature Publishing Group Apr 2001</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c498t-ba6b880699c282d4ceb26e17c45421458a604e722d7a2680d2177913edce90ec3</citedby><cites>FETCH-LOGICAL-c498t-ba6b880699c282d4ceb26e17c45421458a604e722d7a2680d2177913edce90ec3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.proquest.com/docview/210363416?pq-origsite=primo$$EHTML$$P50$$Gproquest$$H</linktohtml><link.rule.ids>314,780,784,27924,27925,64385,64387,64389,72469</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=1004150$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/11286631$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Kauppinen, Raili</creatorcontrib><creatorcontrib>von, Mikael</creatorcontrib><creatorcontrib>Fraunberg, und zu</creatorcontrib><creatorcontrib>Ahola, Helena</creatorcontrib><creatorcontrib>Mustajoki, Pertti</creatorcontrib><creatorcontrib>Timonen, Kaisa</creatorcontrib><creatorcontrib>Laitinen, Eila</creatorcontrib><creatorcontrib>Tenhunen, Raimo</creatorcontrib><creatorcontrib>Taketani, Shigeru</creatorcontrib><title>Homozygous Variegate Porphyria: 20 y Follow-Up and Characterization of Molecular Defect</title><title>Journal of investigative dermatology</title><addtitle>J Invest Dermatol</addtitle><description>The long-term follow-up of a homozygous variegate porphyria patient revealed severe photosensitivity accompanied by mild sensory neuropathy and IgA nephropathy. 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| subjects | Base Sequence - genetics Biological and medical sciences Flavoproteins Follow-Up Studies Genetic Variation Homozygote Humans Male Medical sciences Metabolic diseases Mitochondrial Proteins Molecular Sequence Data mutation Other metabolic disorders Oxidoreductases - genetics Oxidoreductases Acting on CH-CH Group Donors Pedigree Pigments (porphyrias, hyperbilirubinemias...) porphyria Porphyrias - genetics Porphyrias - pathology Porphyrias - physiopathology Protoporphyrinogen Oxidase variegate porphyria |
| title | Homozygous Variegate Porphyria: 20 y Follow-Up and Characterization of Molecular Defect |
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