{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,9]],"date-time":"2026-04-09T14:16:01Z","timestamp":1775744161241,"version":"3.50.1"},"reference-count":20,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2024,7,26]],"date-time":"2024-07-26T00:00:00Z","timestamp":1721952000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100017695","name":"Health Commission of Hunan Province","doi-asserted-by":"publisher","award":["20230465"],"award-info":[{"award-number":["20230465"]}],"id":[{"id":"10.13039\/100017695","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Endocrinol."],"abstract":"<jats:p>Xeroderma pigmentosum is a rare autosomal recessive genodermatoses characterized by a deficiency in nucleotide excision repair. Erythropoietic protoporphyria is a rare inherited metabolic disease caused by the perturbation of heme. Xeroderma pigmentosum-erythropoietic protoporphyria is exceedingly rare. Hereby, we firstly report a young Chinese patient of xeroderma pigmentosum Group A with erythropoietic protoporphyria carrying an XPA Met214AsnfsTer7 frameshift mutation and a homozygous splicing mutation, c.315\u201348T&amp;gt;C, in the proband\u2019s intron3 of FECH.<\/jats:p>","DOI":"10.3389\/fendo.2024.1418254","type":"journal-article","created":{"date-parts":[[2024,7,26]],"date-time":"2024-07-26T04:30:45Z","timestamp":1721968245000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":1,"title":["Case report: Xeroderma pigmentosum Group A with erythropoietic protoporphyria in a young Chinese patient"],"prefix":"10.3389","volume":"15","author":[{"given":"Shu-hui","family":"Wu","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ting","family":"Xiao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dan","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ying-hong","family":"Zeng","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ming-fang","family":"Zhu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2024,7,26]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","DOI":"10.1016\/j.dnarep.2008.01.014","article-title":"Incidence of DNA repair deficiency disorders in western Europe: Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy","volume":"7","author":"Kleijer","year":"2008","journal-title":"DNA Repair (Amst)"},{"key":"B2","doi-asserted-by":"publisher","first-page":"478","DOI":"10.3390\/medicina60030478","article-title":"XPB\/ERCC3, XPF\/ERCC4, and XPG\/ERCC5 polymorphisms and the susceptibility to head and neck carcinoma: A systematic review, meta-analysis, and trial sequential analysis","volume":"60","author":"Imani","year":"2024","journal-title":"Medicina (Kaunas)"},{"key":"B3","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awad266","article-title":"Neurological disease in xeroderma pigmentosum: prospective cohort study of its features and progression","volume":"146","author":"Garcia-Moreno","year":"2023","journal-title":"Brain"},{"key":"B4","volume-title":"Xeroderma pigmentosum","author":"Lucero","year":"2023"},{"key":"B5","doi-asserted-by":"publisher","first-page":"108286","DOI":"10.1016\/j.mrrev.2019.108286","article-title":"XPC beyond nucleotide excision repair and skin cancers","volume":"782","author":"Zebian","year":"2019","journal-title":"Mutat Res Rev Mutat Res"},{"key":"B6","doi-asserted-by":"publisher","first-page":"8549532","DOI":"10.1155\/2022\/8549532","article-title":"Xeroderma pigmentosum: A genetic condition skin cancer correlated-A systematic review","volume":"2022","author":"Brambullo","year":"2022","journal-title":"BioMed Res Int"},{"key":"B7","doi-asserted-by":"publisher","first-page":"101018","DOI":"10.1016\/j.ymgmr.2023.101018","article-title":"Management of erythropoietic protoporphyria with cholestatic liver disease: A case report","volume":"37","author":"Poli","year":"2023","journal-title":"Mol Genet Metab Rep"},{"key":"B8","volume-title":"Erythropoietic protoporphyria","author":"Ahmed jan NMasood","year":"2023"},{"key":"B9","doi-asserted-by":"publisher","DOI":"10.1111\/1346-8138.13576","article-title":"Clinical and molecular epidemiological study of xeroderma pigmentosum in China: A case series of 19 patients","volume":"44","author":"Zhou","year":"2017","journal-title":"J Dermatol"},{"key":"B10","doi-asserted-by":"publisher","first-page":"2","DOI":"10.1186\/s41021-019-0119-6","article-title":"Mechanism and regulation of DNA damage recognition in nucleotide excision repair","volume":"41","author":"Kusakabe","year":"2019","journal-title":"Genes Environ"},{"key":"B11","doi-asserted-by":"publisher","first-page":"2224","DOI":"10.3390\/ijms23042224","article-title":"Nucleotide excision repair pathway activity is inhibited by airborne particulate matter (PM(10)) through XPA deregulation in lung epithelial cells","volume":"23","author":"Quezada-Maldonado","year":"2022","journal-title":"Int J Mol Sci"},{"key":"B12","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.2208860120","article-title":"A disease-associated XPA allele interferes with TFIIH binding and primarily affects transcription-coupled nucleotide excision repair","volume":"120","author":"van den Heuvel","year":"2023","journal-title":"Proc Natl Acad Sci U S A"},{"key":"B13","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.2158","article-title":"First genetic characterization of Xeroderma pigmentosum in Libya: High frequency of XP-C founder mutation","volume":"11","author":"Khalat","year":"2023","journal-title":"Mol Genet Genomic Med"},{"key":"B14","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2018.06.005","article-title":"Digital PCR (dPCR) analysis reveals that the homozygous c.315-48T>C variant in the FECH gene might cause erythropoietic protoporphyria (EPP)","volume":"124","author":"Brancaleoni","year":"2018","journal-title":"Mol Genet Metab"},{"key":"B15","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2014.02.010","article-title":"Antisense oligonucleotide-based therapy in human erythropoietic protoporphyria","volume":"94","author":"Oustric","year":"2014","journal-title":"Am J Hum Genet"},{"key":"B16","doi-asserted-by":"publisher","first-page":"35","DOI":"10.1038\/s41436-019-0584-0","article-title":"Targeted resequencing of FECH locus reveals that a novel deep intronic pathogenic variant and eQTLs may cause erythropoietic protoporphyria (EPP) through a methylation-dependent mechanism","volume":"22","author":"Chiara","year":"2020","journal-title":"Genet Med"},{"key":"B17","doi-asserted-by":"publisher","first-page":"151","DOI":"10.3390\/diagnostics12010151","article-title":"Recognized and emerging features of erythropoietic and X-linked protoporphyria","volume":"12","author":"Di Pierro","year":"2022","journal-title":"Diagnostics (Basel)"},{"key":"B18","doi-asserted-by":"publisher","DOI":"10.1146\/annurev-med-042921-123602","article-title":"Update on the porphyrias","volume":"75","author":"Dickey","year":"2024","journal-title":"Annu Rev Med"},{"key":"B19","doi-asserted-by":"publisher","first-page":"100939","DOI":"10.1016\/j.ymgmr.2022.100939","article-title":"A pilot study of oral iron therapy in erythropoietic protoporphyria and X-linked protoporphyria","volume":"33","author":"Balwani","year":"2022","journal-title":"Mol Genet Metab Rep"},{"key":"B20","doi-asserted-by":"publisher","DOI":"10.1136\/bmjopen-2022-068112","article-title":"Clinical trial on the efficacy and safety of NPC-15 for patients with xeroderma pigmentosum exaggerated sunburn reaction type: XP-1 study protocol for a multicentre, double-blinded, placebo-controlled, two-group crossover study followed by a long-term open study in Japan","volume":"13","author":"Tsujimoto","year":"2023","journal-title":"BMJ Open"}],"container-title":["Frontiers in Endocrinology"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fendo.2024.1418254\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,7,26]],"date-time":"2024-07-26T04:30:48Z","timestamp":1721968248000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fendo.2024.1418254\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,7,26]]},"references-count":20,"alternative-id":["10.3389\/fendo.2024.1418254"],"URL":"https:\/\/doi.org\/10.3389\/fendo.2024.1418254","relation":{},"ISSN":["1664-2392"],"issn-type":[{"value":"1664-2392","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,7,26]]},"article-number":"1418254"}}