{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T02:56:24Z","timestamp":1761101784835},"reference-count":19,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2006,12,14]],"date-time":"2006-12-14T00:00:00Z","timestamp":1166054400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2007,1]]},"abstract":"<jats:p>Erythropoietic protoporphyria (EPP) is an autosomal dominant disease with incomplete penetrance due to reduced activity of ferrochelatase (FECH), a mitochondrial enzyme that catalyzes the final step of the heme biosynthetic pathway. The clinical phenotype of EPP results from co\u2010inheritance of a mutated allele and a wild\u2010type low\u2010expressed allele of the <jats:italic>FECH<\/jats:italic> gene. To date, more than 88 different mutations have been identified in the <jats:italic>FECH<\/jats:italic> gene of patients with EPP. There are evidences suggesting that an entire haplotype (\u2212251G, IVS1\u201323T and IVS3\u201348C) reduces allele expression. In this study, we searched for the \u2212251A\/G, IVS1\u201323C\/T and IVS3\u201348T\/C polymorphisms in two unrelated Italian families with EPP. In all the patients, carrying the \u2212250G&gt;C mutation in the promoter region, the IVS3\u201348C on the other allele showed apparent homozygosity and absence of Mendelian segregation. By RNA and long polymerase chain reaction analysis, we identified a deletion of 5576 bp (g12490_18067), including exons 3 and 4, in <jats:italic>cis<\/jats:italic> with the \u2212250G&gt;C mutation in the promoter.<\/jats:p>","DOI":"10.1111\/j.1399-0004.2007.00733.x","type":"journal-article","created":{"date-parts":[[2006,12,15]],"date-time":"2006-12-15T01:10:33Z","timestamp":1166145033000},"page":"84-88","source":"Crossref","is-referenced-by-count":15,"title":["Co\u2010existence of two functional mutations on the same allele of the human ferrochelatase gene in erythropoietic protoporphyria"],"prefix":"10.1111","volume":"71","author":[{"given":"E","family":"Di Pierro","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V","family":"Brancaleoni","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V","family":"Moriondo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V","family":"Besana","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"MD","family":"Cappellini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2006,12,14]]},"reference":[{"key":"e_1_2_4_2_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI108895"},{"key":"e_1_2_4_3_2","first-page":"2103","volume-title":"The metabolic and molecular bases of inherited disease","author":"Kappas A","year":"1995"},{"key":"e_1_2_4_4_2","doi-asserted-by":"publisher","DOI":"10.1080\/003655100448347"},{"key":"e_1_2_4_5_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1432-1033.1992.tb16771.x"},{"key":"e_1_2_4_6_2","doi-asserted-by":"crossref","first-page":"30789","DOI":"10.1016\/S0021-9258(18)47351-6","article-title":"A single promoter directs both housekeeping and erythroid preferential expression of the human ferrochelatase gene","volume":"269","author":"Tugores A","year":"1994","journal-title":"J Biol Chem"},{"key":"e_1_2_4_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0006-291X(05)80099-3"},{"key":"e_1_2_4_8_2","first-page":"292","article-title":"Modulation of the phenotype in dominant erythropoietic protoporphyria by a low expression of the normal ferrochelatase allele","volume":"58","author":"Gouya L","year":"1996","journal-title":"Am J Hum Genet"},{"key":"e_1_2_4_9_2","doi-asserted-by":"publisher","DOI":"10.1086\/301870"},{"key":"e_1_2_4_10_2","unstructured":"Institute of Medical Genetics in Cardiff. 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