Genetic study in a Singaporean patient with erythropoietic protoporphyria
Summary Erythropoietic protoporphyria (EPP) is a rare autosomal dominant disorder of haem biosynthesis resulting from a partial decrease in ferrochelatase (FECH) activity which leads to the excessive accumulation of protoporphyrin in blood, erythrocytes and tissues. Cutaneous manifestations of photo...
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| Veröffentlicht in: | Photodermatology, photoimmunology & photomedicine photoimmunology & photomedicine, 2012-10, Vol.28 (5), p.269-271 |
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| container_title | Photodermatology, photoimmunology & photomedicine |
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| creator | Chuah, Sai Yee Tee, Shang-Ian Pramono, Zacharias Aloysius Dwi Theng, Colin Thiam Seng |
| description | Summary
Erythropoietic protoporphyria (EPP) is a rare autosomal dominant disorder of haem biosynthesis resulting from a partial decrease in ferrochelatase (FECH) activity which leads to the excessive accumulation of protoporphyrin in blood, erythrocytes and tissues. Cutaneous manifestations of photosensitivity usually appear in early infancy upon the first sun exposures. This normally requires the co‐inheritance of a common hypomorphic FECH allele and a deleterious FECH mutation. Here, we report the first Singaporean Chinese patient with EPP characterized at the molecular level. |
| doi_str_mv | 10.1111/j.1600-0781.2012.00685.x |
| format | Article |
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Erythropoietic protoporphyria (EPP) is a rare autosomal dominant disorder of haem biosynthesis resulting from a partial decrease in ferrochelatase (FECH) activity which leads to the excessive accumulation of protoporphyrin in blood, erythrocytes and tissues. Cutaneous manifestations of photosensitivity usually appear in early infancy upon the first sun exposures. This normally requires the co‐inheritance of a common hypomorphic FECH allele and a deleterious FECH mutation. Here, we report the first Singaporean Chinese patient with EPP characterized at the molecular level.</description><identifier>ISSN: 0905-4383</identifier><identifier>EISSN: 1600-0781</identifier><identifier>DOI: 10.1111/j.1600-0781.2012.00685.x</identifier><identifier>PMID: 22971195</identifier><language>eng</language><publisher>Oxford: Blackwell Publishing Ltd</publisher><subject>Adult ; Alleles ; Asian Continental Ancestry Group ; Biological and medical sciences ; Dermatology ; erythropoietic protoporphyria ; ferrochelatase ; Ferrochelatase - genetics ; Ferrochelatase - metabolism ; Heme - biosynthesis ; Heme - genetics ; Humans ; Male ; Medical sciences ; Metabolic diseases ; Other metabolic disorders ; Photosensitivity Disorders - blood ; Photosensitivity Disorders - etiology ; Photosensitivity Disorders - genetics ; Pigments (porphyrias, hyperbilirubinemias...) ; Protoporphyria, Erythropoietic - blood ; Protoporphyria, Erythropoietic - complications ; Protoporphyria, Erythropoietic - genetics ; protoporphyrin ; Protoporphyrins - blood ; Singapore ; Skin involvement in other diseases. Miscellaneous. General aspects ; Sunlight - adverse effects</subject><ispartof>Photodermatology, photoimmunology & photomedicine, 2012-10, Vol.28 (5), p.269-271</ispartof><rights>2012 John Wiley & Sons A/S</rights><rights>2015 INIST-CNRS</rights><rights>2012 John Wiley & Sons A/S.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><cites>FETCH-LOGICAL-c4155-65474e307e134e8e519783f48ef9e67488e7580b78269c5a1af8b27efdc2968b3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1111%2Fj.1600-0781.2012.00685.x$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1111%2Fj.1600-0781.2012.00685.x$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,780,784,1417,27924,27925,45574,45575</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=26362871$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/22971195$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Chuah, Sai Yee</creatorcontrib><creatorcontrib>Tee, Shang-Ian</creatorcontrib><creatorcontrib>Pramono, Zacharias Aloysius Dwi</creatorcontrib><creatorcontrib>Theng, Colin Thiam Seng</creatorcontrib><title>Genetic study in a Singaporean patient with erythropoietic protoporphyria</title><title>Photodermatology, photoimmunology & photomedicine</title><addtitle>Photodermatol. Photoimmunol. Photomed</addtitle><description>Summary
Erythropoietic protoporphyria (EPP) is a rare autosomal dominant disorder of haem biosynthesis resulting from a partial decrease in ferrochelatase (FECH) activity which leads to the excessive accumulation of protoporphyrin in blood, erythrocytes and tissues. Cutaneous manifestations of photosensitivity usually appear in early infancy upon the first sun exposures. This normally requires the co‐inheritance of a common hypomorphic FECH allele and a deleterious FECH mutation. Here, we report the first Singaporean Chinese patient with EPP characterized at the molecular level.</description><subject>Adult</subject><subject>Alleles</subject><subject>Asian Continental Ancestry Group</subject><subject>Biological and medical sciences</subject><subject>Dermatology</subject><subject>erythropoietic protoporphyria</subject><subject>ferrochelatase</subject><subject>Ferrochelatase - genetics</subject><subject>Ferrochelatase - metabolism</subject><subject>Heme - biosynthesis</subject><subject>Heme - genetics</subject><subject>Humans</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Metabolic diseases</subject><subject>Other metabolic disorders</subject><subject>Photosensitivity Disorders - blood</subject><subject>Photosensitivity Disorders - etiology</subject><subject>Photosensitivity Disorders - genetics</subject><subject>Pigments (porphyrias, hyperbilirubinemias...)</subject><subject>Protoporphyria, Erythropoietic - blood</subject><subject>Protoporphyria, Erythropoietic - complications</subject><subject>Protoporphyria, Erythropoietic - genetics</subject><subject>protoporphyrin</subject><subject>Protoporphyrins - blood</subject><subject>Singapore</subject><subject>Skin involvement in other diseases. Miscellaneous. General aspects</subject><subject>Sunlight - adverse effects</subject><issn>0905-4383</issn><issn>1600-0781</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2012</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqNkMtu2zAQRYmiQeM6_YVAmwLdSCHFpxZdJEHrBDFc54UuCVoexXRlSSFpxPr70rHjLhtuSILncmYOQgnBGYnrbJkRgXGKpSJZjkmeYSwUzzYf0ODw8BENcIF5yqiix-iz90uMMWOYfELHeV5IQgo-QNcjaCDYMvFhPe8T2yQmubfNk-laB6ZJOhMsNCF5sWGRgOvDwrVda18jnWtDvLhu0TtrTtBRZWoPX_b7ED3-_PFweZWOf42uL8_HackI56ngTDKgWAKhDBRwUkhFK6agKkBIphRIrvBMqlwUJTfEVGqWS6jmZV4INaND9G33byz_vAYf9Mr6EuraNNCuvSaSUx4HFOz_KKaFUpQyHlG1Q0vXeu-g0p2zK-P6COmtc73UW7V6q1ZvnetX53oTo6f7KuvZCuaH4JvkCHzdA8aXpq6caUrr_3GCilxJErnvO-7F1tC_uwE9vZpO4ynm013e-gCbQ964P1pIKrn-PRlpfju6mNzdTvQN_QumCqs0</recordid><startdate>201210</startdate><enddate>201210</enddate><creator>Chuah, Sai Yee</creator><creator>Tee, Shang-Ian</creator><creator>Pramono, Zacharias Aloysius Dwi</creator><creator>Theng, Colin Thiam Seng</creator><general>Blackwell Publishing Ltd</general><general>Blackwell</general><scope>BSCLL</scope><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope></search><sort><creationdate>201210</creationdate><title>Genetic study in a Singaporean patient with erythropoietic protoporphyria</title><author>Chuah, Sai Yee ; Tee, Shang-Ian ; Pramono, Zacharias Aloysius Dwi ; Theng, Colin Thiam Seng</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4155-65474e307e134e8e519783f48ef9e67488e7580b78269c5a1af8b27efdc2968b3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2012</creationdate><topic>Adult</topic><topic>Alleles</topic><topic>Asian Continental Ancestry Group</topic><topic>Biological and medical sciences</topic><topic>Dermatology</topic><topic>erythropoietic protoporphyria</topic><topic>ferrochelatase</topic><topic>Ferrochelatase - genetics</topic><topic>Ferrochelatase - metabolism</topic><topic>Heme - biosynthesis</topic><topic>Heme - genetics</topic><topic>Humans</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Metabolic diseases</topic><topic>Other metabolic disorders</topic><topic>Photosensitivity Disorders - blood</topic><topic>Photosensitivity Disorders - etiology</topic><topic>Photosensitivity Disorders - genetics</topic><topic>Pigments (porphyrias, hyperbilirubinemias...)</topic><topic>Protoporphyria, Erythropoietic - blood</topic><topic>Protoporphyria, Erythropoietic - complications</topic><topic>Protoporphyria, Erythropoietic - genetics</topic><topic>protoporphyrin</topic><topic>Protoporphyrins - blood</topic><topic>Singapore</topic><topic>Skin involvement in other diseases. Miscellaneous. General aspects</topic><topic>Sunlight - adverse effects</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Chuah, Sai Yee</creatorcontrib><creatorcontrib>Tee, Shang-Ian</creatorcontrib><creatorcontrib>Pramono, Zacharias Aloysius Dwi</creatorcontrib><creatorcontrib>Theng, Colin Thiam Seng</creatorcontrib><collection>Istex</collection><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><jtitle>Photodermatology, photoimmunology & photomedicine</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Chuah, Sai Yee</au><au>Tee, Shang-Ian</au><au>Pramono, Zacharias Aloysius Dwi</au><au>Theng, Colin Thiam Seng</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Genetic study in a Singaporean patient with erythropoietic protoporphyria</atitle><jtitle>Photodermatology, photoimmunology & photomedicine</jtitle><addtitle>Photodermatol. Photoimmunol. Photomed</addtitle><date>2012-10</date><risdate>2012</risdate><volume>28</volume><issue>5</issue><spage>269</spage><epage>271</epage><pages>269-271</pages><issn>0905-4383</issn><eissn>1600-0781</eissn><abstract>Summary
Erythropoietic protoporphyria (EPP) is a rare autosomal dominant disorder of haem biosynthesis resulting from a partial decrease in ferrochelatase (FECH) activity which leads to the excessive accumulation of protoporphyrin in blood, erythrocytes and tissues. Cutaneous manifestations of photosensitivity usually appear in early infancy upon the first sun exposures. This normally requires the co‐inheritance of a common hypomorphic FECH allele and a deleterious FECH mutation. Here, we report the first Singaporean Chinese patient with EPP characterized at the molecular level.</abstract><cop>Oxford</cop><pub>Blackwell Publishing Ltd</pub><pmid>22971195</pmid><doi>10.1111/j.1600-0781.2012.00685.x</doi><tpages>3</tpages></addata></record> |
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| source | MEDLINE; Wiley Online Library All Journals |
| subjects | Adult Alleles Asian Continental Ancestry Group Biological and medical sciences Dermatology erythropoietic protoporphyria ferrochelatase Ferrochelatase - genetics Ferrochelatase - metabolism Heme - biosynthesis Heme - genetics Humans Male Medical sciences Metabolic diseases Other metabolic disorders Photosensitivity Disorders - blood Photosensitivity Disorders - etiology Photosensitivity Disorders - genetics Pigments (porphyrias, hyperbilirubinemias...) Protoporphyria, Erythropoietic - blood Protoporphyria, Erythropoietic - complications Protoporphyria, Erythropoietic - genetics protoporphyrin Protoporphyrins - blood Singapore Skin involvement in other diseases. Miscellaneous. General aspects Sunlight - adverse effects |
| title | Genetic study in a Singaporean patient with erythropoietic protoporphyria |
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