{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,21]],"date-time":"2026-03-21T04:27:41Z","timestamp":1774067261847,"version":"3.50.1"},"reference-count":36,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2022,8,18]],"date-time":"2022-08-18T00:00:00Z","timestamp":1660780800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2022,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Dystrophic epidermolysis bullosa (DEB) is a clinically heterogeneous heritable skin disorder, characterized by blistering of the skin and mucous membranes following minor trauma. Dominant (DDEB) and recessive (RDEB) forms are caused by pathogenic variants in <jats:italic>COL7A1<\/jats:italic> gene. Argentina's population has a heterogeneous genetic background, and little is known about the molecular basis of DEB in our country or in native South American populations. In this study, we present the prevalence and geographical distribution of pathogenic variants found in 181 patients from 136 unrelated families (31 DDEB and 105 RDEB). We detected 95 different variants, 59 of them were previously reported in the literature and 36 were novel, nine of which were detected in more than one family. The most prevalent pathogenic variants were identified in exon 73 in DDEB patients and in exon 3 in RDEB patients. We also report a new phenotype\u2013genotype correlation found in 10 unrelated families presenting mild blistering and severe mucosal involvement. Molecular studies in populations with an unexplored genetic background like ours revealed a diversity of pathogenic variants, and we hope that these findings will contribute to the definition of targets for new gene therapies.<\/jats:p>","DOI":"10.1002\/ajmg.a.62957","type":"journal-article","created":{"date-parts":[[2022,8,18]],"date-time":"2022-08-18T07:18:39Z","timestamp":1660807119000},"page":"3153-3161","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Analysis of <scp><i>COL7A1<\/i><\/scp> pathogenic variants in a large cohort of dystrophic epidermolysis bullosa patients from Argentina reveals a new genotype\u2013phenotype correlation"],"prefix":"10.1002","volume":"188","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8197-6819","authenticated-orcid":false,"given":"M\u00f3nica In\u00e9s","family":"Natale","sequence":"first","affiliation":[{"name":"Center for Research in Genodermatoses and Epidermolysis Bullosa (CEDIGEA) University of Buenos Aires  Buenos Aires Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0431-0650","authenticated-orcid":false,"given":"Graciela Beatriz","family":"Manzur","sequence":"additional","affiliation":[{"name":"Center for Research in Genodermatoses and Epidermolysis Bullosa (CEDIGEA) University of Buenos Aires  Buenos Aires Argentina"},{"name":"Rare Diseases of the Skin Unit Dr. R. Gutierrez Children's Hospital  Buenos Aires Argentina"},{"name":"Dermatology Department Hospital de Clinicas \u201cJose de San Mart\u00edn\u201d  Buenos Aires Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Silvina Beatriz","family":"Lusso","sequence":"additional","affiliation":[{"name":"Center for Research in Genodermatoses and Epidermolysis Bullosa (CEDIGEA) University of Buenos Aires  Buenos Aires Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eliana","family":"Cella","sequence":"additional","affiliation":[{"name":"Pediatric Dermatology Prof. Dr. Juan P. Garrahan Children's Hospital  Buenos Aires Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mar\u00eda Elsa","family":"Giovo","sequence":"additional","affiliation":[{"name":"Pediatric Dermatology La Santisima Trinidad Children's Hospital  C\u00f3rdoba Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Romina","family":"Andrada","sequence":"additional","affiliation":[{"name":"Dermatology Avelino Castelan Children's Hospital  Resistencia Chaco Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Juana","family":"Goitia","sequence":"additional","affiliation":[{"name":"Pediatric Dermatology Sor Maria Ludovica Children's Hospital  La Plata, Buenos Aires Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mar\u00eda Florencia","family":"Fern\u00e1ndez","sequence":"additional","affiliation":[{"name":"Pediatric Dermatology Fundacion Respirar  Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patricia Silvia","family":"Della Giovanna","sequence":"additional","affiliation":[{"name":"Dermatology Prof. A. Posadas Hospital, El Palomar  Buenos Aires Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mar\u00eda Jos\u00e9","family":"Guillamondegui","sequence":"additional","affiliation":[{"name":"Genetics Unit Humberto J. Notti Children's Hospital  Guaymallen, Mendoza Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mari\u00e1ngeles","family":"Dom\u00ednguez","sequence":"additional","affiliation":[{"name":"Pediatric Dermatology Hospital General de Agudos \u201cCarlos G. Durand\u201d  Buenos Aires Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Olga","family":"Guti\u00e9rrez","sequence":"additional","affiliation":[{"name":"Pediatric Dermatology Ni\u00f1os de Acosta \u00d1u Children's Hospital  San Lorenzo Paraguay"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Agust\u00edn","family":"Izquierdo","sequence":"additional","affiliation":[{"name":"Bioinformatics, Translational Research Unit Dr. R. Guti\u00e9rrez Children's Hospital  Buenos Aires Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Heliana","family":"Hern\u00e1ndez Herrera","sequence":"additional","affiliation":[{"name":"Center for Research in Genodermatoses and Epidermolysis Bullosa (CEDIGEA) University of Buenos Aires  Buenos Aires Argentina"},{"name":"Dermatology Department Hospital de Clinicas \u201cJose de San Mart\u00edn\u201d  Buenos Aires Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luz Graciela","family":"Vel\u00e1zquez Perdomo","sequence":"additional","affiliation":[{"name":"Center for Research in Genodermatoses and Epidermolysis Bullosa (CEDIGEA) University of Buenos Aires  Buenos Aires Argentina"},{"name":"Dermatology Department Hospital de Clinicas \u201cJose de San Mart\u00edn\u201d  Buenos Aires Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alicia Susana","family":"Mistchenko","sequence":"additional","affiliation":[{"name":"Center for Research in Genodermatoses and Epidermolysis Bullosa (CEDIGEA) University of Buenos Aires  Buenos Aires Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8723-5483","authenticated-orcid":false,"given":"Laura Elena","family":"Valinotto","sequence":"additional","affiliation":[{"name":"Center for Research in Genodermatoses and Epidermolysis Bullosa (CEDIGEA) University of Buenos Aires  Buenos Aires Argentina"},{"name":"National Scientific and Technical Research Council (CONICET)  Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,8,18]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2230.1999.00461.x"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0923-1811(99)00018-3"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/skinbio.2012.2"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0945-053X(98)00007-9"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1997)10:5<408::AID-HUMU12>3.0.CO;2-3"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.91.9.3549"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jdermsci.2007.08.007"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2010.09713.x"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkz836"},{"key":"e_1_2_10_11_1","volume-title":"Epidermolysis bullosa: Clinical, epidemiologic, and laboratory advances, and the findings of the National Epidermolysis Bullosa Registry Baltimore","author":"Fine J.\u2010D.","year":"1999"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-021-00959-x"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1747.2002.19606.x"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.18921"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI115916"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1086\/515495"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1997)10:5<338::AID-HUMU2>3.0.CO;2-B"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gku1206"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-020-2308-7"},{"key":"e_1_2_10_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.jid.5700219"},{"key":"e_1_2_10_21_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/bty897"},{"key":"e_1_2_10_22_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkz972"},{"key":"e_1_2_10_23_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13555"},{"key":"e_1_2_10_24_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13059-016-0974-4"},{"key":"e_1_2_10_25_1","doi-asserted-by":"publisher","DOI":"10.1111\/1523-1747.ep12319792"},{"key":"e_1_2_10_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jdermsci.2011.11.010"},{"key":"e_1_2_10_27_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-4362.2000.00975.x"},{"key":"e_1_2_10_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ad.2017.08.008"},{"key":"e_1_2_10_29_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkz997"},{"key":"e_1_2_10_30_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkab266"},{"key":"e_1_2_10_31_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-017-1779-6"},{"key":"e_1_2_10_32_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1747.2002.19637.x"},{"key":"e_1_2_10_33_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21551"},{"key":"e_1_2_10_34_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2010.082230"},{"key":"e_1_2_10_35_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2006.045302"},{"key":"e_1_2_10_36_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jdermsci.2007.01.004"},{"key":"e_1_2_10_37_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1747.1999.00732.x"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.62957","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.62957","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.62957","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,21]],"date-time":"2023-08-21T16:46:23Z","timestamp":1692636383000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.62957"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,8,18]]},"references-count":36,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2022,11]]}},"alternative-id":["10.1002\/ajmg.a.62957"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.62957","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,8,18]]},"assertion":[{"value":"2022-04-26","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-08-01","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-08-18","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}