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Our aim was to characterize recurrent and novel mutations associated to EB in a sample of Brazilian patients. Eighty\u2010seven patients (25 EBS, 4 JEB and 58 DEB) were studied. We performed a next\u2010generation sequencing\u2010based multigene panel through ion torrent technology including 11 genes:\n                    <jats:italic>KRT5<\/jats:italic>\n                    ,\n                    <jats:italic>KRT14<\/jats:italic>\n                    ,\n                    <jats:italic>PLEC<\/jats:italic>\n                    ,\n                    <jats:italic>TGM5<\/jats:italic>\n                    ,\n                    <jats:italic>LAMA3<\/jats:italic>\n                    ,\n                    <jats:italic>LAMB3<\/jats:italic>\n                    ,\n                    <jats:italic>LAMC2<\/jats:italic>\n                    ,\n                    <jats:italic>COL17A1<\/jats:italic>\n                    ,\n                    <jats:italic>ITGB4<\/jats:italic>\n                    ,\n                    <jats:italic>COL7A1<\/jats:italic>\n                    , and\n                    <jats:italic>FERMT1<\/jats:italic>\n                    . A total of 72 different pathogenic or likely pathogenic variants were identified, 32 of them are novel. The causal variant was detected in 82 patients (efficiency of 94.3%). Pathogenic variants in the residue 125 of KRT14 were identified in 32% of all EBS patients. In DEB patients, four\n                    <jats:italic>COL7A1<\/jats:italic>\n                    variants were quite frequent, some of them clustered in specific Brazilian regions. Our study extends the spectrum of known mutations in EB and describes, for the first time, the genetic profile of EB patients from Brazil.\n                  <\/jats:p>","DOI":"10.1111\/cge.13555","type":"journal-article","created":{"date-parts":[[2019,4,19]],"date-time":"2019-04-19T03:00:32Z","timestamp":1555642832000},"page":"189-198","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":29,"title":["An overview of the genetic basis of epidermolysis bullosa in Brazil: discovery of novel and recurrent disease\u2010causing variants"],"prefix":"10.1111","volume":"96","author":[{"given":"Luiza M.","family":"Mariath","sequence":"first","affiliation":[{"name":"Postgraduate Program in Genetics and Molecular Biology Universidade Federal do Rio Grande do Sul  Porto Alegre Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Juliana T.","family":"Santin","sequence":"additional","affiliation":[{"name":"Postgraduate Program in Child and Adolescent Health Universidade Federal do Rio Grande do Sul  Porto Alegre Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jeanine A.","family":"Frantz","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Universidade Regional de Blumenau  Blumenau Brazil"},{"name":"Board of Directors, DEBRA Brasil (Epidermolysis Bullosa Research Association of Brazil)  Blumenau Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria J.R.","family":"Doriqui","sequence":"additional","affiliation":[{"name":"Section of Medical Genetics Hospital Infantil Dr. Juv\u00eancio Mattos  S\u00e3o Lu\u00eds Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana E.","family":"Kiszewski","sequence":"additional","affiliation":[{"name":"Section of Dermatology Universidade Federal de Ci\u00eancias da Sa\u00fade de Porto Alegre  Porto Alegre Brazil"},{"name":"Section of Pediatric Dermatology, Hospital da Crian\u00e7a Santo Ant\u00f4nio Irmandade da Santa Casa de Miseric\u00f3rdia de Porto Alegre  Porto Alegre Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2428-0460","authenticated-orcid":false,"given":"Lav\u00ednia","family":"Schuler\u2010Faccini","sequence":"additional","affiliation":[{"name":"Postgraduate Program in Genetics and Molecular Biology Universidade Federal do Rio Grande do Sul  Porto Alegre Brazil"},{"name":"Department of Genetics, Instituto Nacional de Ci\u00eancia e Tecnologia de Gen\u00e9tica M\u00e9dica Populacional (INaGeMP), Porto Alegre  Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2019,5,29]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2014.01.903"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2008.02.004"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1097\/MOP.0b013e32833bb74f"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2010.10146.x"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-009-0646-5"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2013.277"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/jcp.26898"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2010.09657.x"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jdermsci.2016.12.020"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.4161\/cam.22418"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.2147\/CCID.S54681"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0625.2008.00723.x"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jdermsci.2010.05.007"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.2340\/00015555-1053"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.jid.5700163"},{"key":"e_1_2_8_17_1","doi-asserted-by":"crossref","first-page":"S203","DOI":"10.4103\/0975-7406.155903","article-title":"Genodermatoses","volume":"7","author":"Babu NA","year":"2015","journal-title":"J Pharm Bioallied Sci"},{"key":"e_1_2_8_18_1","unstructured":"Orphanet Report Series. 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