{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T07:50:15Z","timestamp":1753861815723,"version":"3.41.2"},"reference-count":28,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2025,2,27]],"date-time":"2025-02-27T00:00:00Z","timestamp":1740614400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100002077","name":"Epidermolysis Bullosa Medical Research Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100002077","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2025,7]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>Recessive dystrophic epidermolysis bullosa (RDEB) is a rare genetic disorder caused by biallelic pathogenic variants in <jats:italic>COL7A1<\/jats:italic>, the gene encoding the alpha\u20101 chain of type VII collagen (C7). While over 100 pathogenic variants in <jats:italic>COL7A1<\/jats:italic> have been linked to RDEB, recurrent variants or hot spots are rare. A recurrent pathogenic variant, c.7485+5G&gt;A (also known as IVS98+5G&gt;A) in intron 98 of <jats:italic>COL7A1<\/jats:italic>, has been noted in patients of Hispanic ethnicity seen in the Epidermolysis Bullosa Clinic at Children's Hospital Colorado. We describe the phenotypic characteristics of 17 patients with this variant and compare the phenotypic severity of patients homozygous versus compound heterozygous for the variant. These genotype\u2013phenotype correlations may help to provide prognostic information to patients and families affected by RDEB.<\/jats:p>","DOI":"10.1002\/ajmg.a.64032","type":"journal-article","created":{"date-parts":[[2025,3,5]],"date-time":"2025-03-05T18:34:11Z","timestamp":1741199651000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Phenotypic Characteristics of a Patient Cohort With Recessive Dystrophic Epidermolysis Bullosa and the Pathogenic Variant c.7485+<scp>5G<\/scp>&gt;A in Intron 98 of <scp><i>COL7A1<\/i><\/scp>"],"prefix":"10.1002","volume":"197","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7492-6015","authenticated-orcid":false,"given":"Micah G.","family":"Pascual","sequence":"first","affiliation":[{"name":"Department of Pediatrics University of Colorado, School of Medicine  Aurora Colorado USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hannah C.","family":"Cox","sequence":"additional","affiliation":[{"name":"Precision Diagnostics Laboratory Children's Hospital Colorado  Aurora Colorado USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2079-6929","authenticated-orcid":false,"given":"Austin","family":"Larson","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Section of Genetics and Metabolism University of Colorado, School of Medicine  Aurora Colorado USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna L.","family":"Bruckner","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Colorado, School of Medicine  Aurora Colorado USA"},{"name":"Department of Dermatology University of Colorado, School of Medicine  Aurora Colorado USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,2,27]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jid.2023.10.035"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymthe.2019.03.007"},{"issue":"6","key":"e_1_2_11_4_1","first-page":"825","article-title":"The Historical and Geomedical Immunogenetics of Pemphigus Among the Descendants of Sephardic Jews in New Mexico","volume":"137","author":"Bordenave K.","year":"2001","journal-title":"Archives of Dermatology"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/1523\u20101747.ep12336276"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1994.1239"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600\u20100625.2008.00723.x"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1086\/302167"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365\u20102133.2010.09713.x"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamadermatol.2018.4673"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2014.01.903"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1172\/jci34292"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa2206663"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes12091308"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jbi.2008.08.010"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.18921"},{"key":"e_1_2_11_17_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkw010"},{"key":"e_1_2_11_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20400"},{"key":"e_1_2_11_19_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkx1153"},{"key":"e_1_2_11_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.omtn.2018.01.009"},{"key":"e_1_2_11_21_1","doi-asserted-by":"publisher","DOI":"10.1086\/302626"},{"key":"e_1_2_11_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/cncr.11533"},{"key":"e_1_2_11_23_1","unstructured":"NM_000094.4(COL7A1):c.7485+5G>A. n.d.\u201cClinVar\u201d; [VCV000372350.10].https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/variation\/VCV000372350.10."},{"key":"e_1_2_11_24_1","doi-asserted-by":"publisher","DOI":"10.5582\/irdr.2017.01005"},{"key":"e_1_2_11_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jdermsci.2011.11.010"},{"issue":"1","key":"e_1_2_11_26_1","first-page":"29","article-title":"2470insG, Represents the Commonest Mutation in Mexican Patients With Dystrophic Bullous Epidermolysis. A Study of 21 Families. [Las epidermolisis bullosas distr\u00f3ficas en M\u00e9xico: 2470insG representa la mutaci\u00f3n mas com\u00fan en 21 familias]","volume":"142","author":"Salas\u2010Alanis J. C.","year":"2006","journal-title":"Gaceta M\u00e9dica de M\u00e9xico"},{"key":"e_1_2_11_27_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365\u20102133.2012.11128.x"},{"issue":"6","key":"e_1_2_11_28_1","first-page":"1083","article-title":"Genetic Risk for Recombinant 8 Syndrome and the Transmission Rate of Balanced Inversion 8 in the Hispanic Population of the Southwestern United States","volume":"41","author":"Smith A. 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