{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,27]],"date-time":"2026-06-27T06:04:07Z","timestamp":1782540247967,"version":"3.54.5"},"reference-count":46,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2022,11,5]],"date-time":"2022-11-05T00:00:00Z","timestamp":1667606400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81874239"],"award-info":[{"award-number":["81874239"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82103717"],"award-info":[{"award-number":["82103717"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82173396"],"award-info":[{"award-number":["82173396"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Acad Dermatol Venereol"],"published-print":{"date-parts":[[2023,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Epidermolysis bullosa (EB) is a heterogeneous group of rare and incurable genetic blistering disorders.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objectives<\/jats:title><jats:p>The objective was to analyse the genotype\u2013phenotype correlation in EB among Chinese individuals.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Next\u2010generation sequencing and Sanger sequencing were performed to genetically confirm clinically diagnosed EB. Reverse transcription\u2010PCR and splice\u2010site analysis were used to evaluate the consequences of splicing mutations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A total of 441 cases (413 families) across 11 genes were included. EB simplex (EBS), junctional EB (JEB), dystrophic EB (DEB), Kindler EB, simplex and junctional compound EB accounted for 23.4%, 12.7%, 61.5%, 1.1% and 0.2%, respectively. In 16 probands with presumptive recessive EB, failed to find the second allele, <jats:italic>COL7A1<\/jats:italic> (10), <jats:italic>COL17A1<\/jats:italic> (4), <jats:italic>LAMB3<\/jats:italic> (1) and <jats:italic>ITGB4<\/jats:italic> (1). De novo mutations are common in dominant EB (63.8% in EBS, 27.5% in DEB) but extremely rare in recessive DEB (RDEB; 0.74%). Mosaicism is more common than presumed, with 5.4% of dominant EBS. In JEB, only 45.0% of patients with biallelic premature termination codon (PTC) mutations in laminin 332 genes died within 24\u2009months, with a longer average survival age of 11.1\u00a0months. In JEB, unusual phenotypes are frequently observed, notably urinary tract involvement, duodenal atresia and EB nevi. In RDEB, 48.8% of cases with biallelic PTC mutations in <jats:italic>COL7A1<\/jats:italic> exhibited a relatively mild phenotype; they are likely to develop a severe phenotype at 0\u20134\u2009years old, and the PTC mutations position closer to the N\u2010terminal, leading to earlier onset. Glycine substitution mutations in DEB have complex genotypic and phenotypic heterogeneity. The rare subtype, dominant and recessive compound DEB, consists of 1.8% of the total DEB.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>This study reveals the general rules governing genotype\u2013phenotype correlations, rare phenotypes and complex genotypes. Collectively, mutation analysis in different forms of EB provides the basis for improved subclassification with accurate genetic counselling and for prenatal diagnosis.<\/jats:p><\/jats:sec>","DOI":"10.1111\/jdv.18692","type":"journal-article","created":{"date-parts":[[2022,10,26]],"date-time":"2022-10-26T14:20:01Z","timestamp":1666794001000},"page":"411-419","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":23,"title":["Genotype and phenotype correlations in 441 patients with epidermolysis bullosa from China"],"prefix":"10.1111","volume":"37","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7439-4845","authenticated-orcid":false,"given":"Fuying","family":"Chen","sequence":"first","affiliation":[{"name":"Department of Dermatology, Xinhua Hospital Shanghai Jiaotong University School of Medicine  Shanghai China"},{"name":"Institute of Dermatology Shanghai Jiaotong University School of Medicine  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8818-4534","authenticated-orcid":false,"given":"Ruoqu","family":"Wei","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Xinhua Hospital Shanghai Jiaotong University School of Medicine  Shanghai China"},{"name":"Institute of Dermatology Shanghai Jiaotong University School of Medicine  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dan","family":"Deng","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Xinhua Hospital Shanghai Jiaotong University School of Medicine  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xue","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Xinhua Hospital Shanghai Jiaotong University School of Medicine  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yu","family":"Cao","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Xinhua Hospital Shanghai Jiaotong University School of Medicine  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chaolan","family":"Pan","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Xinhua Hospital Shanghai Jiaotong University School of Medicine  Shanghai China"},{"name":"Institute of Dermatology Shanghai Jiaotong University School of Medicine  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yumeng","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Xinhua Hospital Shanghai Jiaotong University School of Medicine  Shanghai China"},{"name":"Institute of Dermatology Shanghai Jiaotong University School of Medicine  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qiaoyu","family":"Cao","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Xinhua Hospital Shanghai Jiaotong University School of Medicine  Shanghai China"},{"name":"Institute of Dermatology Shanghai Jiaotong University School of Medicine  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jianbo","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Dermatology Henan Provincial People's Hospital, Henan University People's Hospital  Zhengzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ming","family":"Zeng","sequence":"additional","affiliation":[{"name":"Department of Dermatology The First Affiliated Hospital of Jinan University, Guangzhou Overseas Chinese Hospital  Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Linting","family":"Huang","sequence":"additional","affiliation":[{"name":"Department of Laser and Aesthetic Medicine Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yan","family":"Gu","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Xinhua Hospital Shanghai Jiaotong University School of Medicine  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0785-8985","authenticated-orcid":false,"given":"Zhirong","family":"Yao","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Xinhua Hospital Shanghai Jiaotong University School of Medicine  Shanghai China"},{"name":"Institute of Dermatology Shanghai Jiaotong University School of Medicine  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3053-2756","authenticated-orcid":false,"given":"Ming","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Xinhua Hospital Shanghai Jiaotong University School of Medicine  Shanghai China"},{"name":"Institute of Dermatology Shanghai Jiaotong University School of Medicine  Shanghai China"},{"name":"Department of Dermatology Children's Hospital of Fudan University, National Children's Medical Center  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,11,5]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.18921"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/jdv.17012"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41572-020-0210-0"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.9.4.423"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev-genet-121415-121955"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1747.2003.12424.x"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.jid.5700025"},{"key":"e_1_2_10_9_1","first-page":"849","article-title":"Junctional epidermolysis bullosa with LAMB3 splice\u2010site mutations","volume":"95","author":"Kiritsi D","year":"2015","journal-title":"Acta Derm Venereol"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-001-0630-1"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.ju.0000143200.86683.2c"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.12317"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/ced.12300"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.2340\/00015555-1053"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13791"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2006.045302"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1747.2001.01324.x"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1747.2003.12084.x"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.21059"},{"key":"e_1_2_10_20_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2021.736610"},{"key":"e_1_2_10_21_1","doi-asserted-by":"publisher","DOI":"10.1111\/jdv.14005"},{"key":"e_1_2_10_22_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.93.17.9079"},{"key":"e_1_2_10_23_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2133.1997.d01-1235.x"},{"key":"e_1_2_10_24_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.039685"},{"key":"e_1_2_10_25_1","first-page":"682","article-title":"Compound heterozygosity for COL7A1 mutations in twins with dystrophic epidermolysis bullosa: a recessive paternal deletion\/insertion mutation and a dominant negative maternal glycine substitution result in a severe phenotype","volume":"58","author":"Christiano AM","year":"1996","journal-title":"Am J Hum Genet"},{"key":"e_1_2_10_26_1","doi-asserted-by":"publisher","DOI":"10.1159\/000322619"},{"key":"e_1_2_10_27_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2010.09713.x"},{"key":"e_1_2_10_28_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2230.2004.01495.x"},{"key":"e_1_2_10_29_1","doi-asserted-by":"publisher","DOI":"10.5021\/ad.2016.28.4.503"},{"key":"e_1_2_10_30_1","doi-asserted-by":"publisher","DOI":"10.1111\/ced.12946"},{"key":"e_1_2_10_31_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2015.9"},{"key":"e_1_2_10_32_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23592"},{"key":"e_1_2_10_33_1","doi-asserted-by":"publisher","DOI":"10.1111\/ajd.13236"},{"key":"e_1_2_10_34_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.15053"},{"key":"e_1_2_10_35_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.119.2.401"},{"key":"e_1_2_10_36_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jid.2017.05.016"},{"key":"e_1_2_10_37_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2006.07703.x"},{"key":"e_1_2_10_38_1","doi-asserted-by":"publisher","DOI":"10.2340\/00015555-1691"},{"key":"e_1_2_10_39_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jid.2016.06.609"},{"key":"e_1_2_10_40_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1525-1470.1995.tb00148.x"},{"key":"e_1_2_10_41_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2010.086751"},{"key":"e_1_2_10_42_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.19752"},{"key":"e_1_2_10_43_1","doi-asserted-by":"publisher","DOI":"10.2340\/00015555-3133"},{"key":"e_1_2_10_44_1","doi-asserted-by":"publisher","DOI":"10.1007\/s001050170072"},{"key":"e_1_2_10_45_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.det.2009.10.024"},{"key":"e_1_2_10_46_1","doi-asserted-by":"publisher","DOI":"10.1111\/jdv.18020"},{"key":"e_1_2_10_47_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1747.1999.00615.x"}],"container-title":["Journal of the European Academy of Dermatology and Venereology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/jdv.18692","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/jdv.18692","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/jdv.18692","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,22]],"date-time":"2023-08-22T13:42:02Z","timestamp":1692711722000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/jdv.18692"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,11,5]]},"references-count":46,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2023,2]]}},"alternative-id":["10.1111\/jdv.18692"],"URL":"https:\/\/doi.org\/10.1111\/jdv.18692","archive":["Portico"],"relation":{},"ISSN":["0926-9959","1468-3083"],"issn-type":[{"value":"0926-9959","type":"print"},{"value":"1468-3083","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,11,5]]},"assertion":[{"value":"2022-07-18","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-10-06","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-11-05","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}