{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,17]],"date-time":"2026-06-17T02:15:32Z","timestamp":1781662532403,"version":"3.54.5"},"reference-count":33,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2025,2,4]],"date-time":"2025-02-04T00:00:00Z","timestamp":1738627200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"},{"start":{"date-parts":[[2025,2,4]],"date-time":"2025-02-04T00:00:00Z","timestamp":1738627200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"}],"funder":[{"DOI":"10.13039\/501100010221","name":"Higher Education Commission, Pakistan","doi-asserted-by":"publisher","award":["international research support initiative program"],"award-info":[{"award-number":["international research support initiative program"]}],"id":[{"id":"10.13039\/501100010221","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Med Genomics"],"DOI":"10.1186\/s12920-024-02077-1","type":"journal-article","created":{"date-parts":[[2025,2,4]],"date-time":"2025-02-04T17:32:24Z","timestamp":1738690344000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["A pathogenic COL7A1 variant highlights semi-dominant inheritance in dystrophic epidermolysis bullosa"],"prefix":"10.1186","volume":"18","author":[{"given":"Saira","family":"Sattar","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thashi","family":"Bharadwaj","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Umm-e-","family":"Kalsoom","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anushree","family":"Acharya","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saadullah","family":"Khan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suzanne M.","family":"Leal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7310-6082","authenticated-orcid":false,"given":"Isabelle","family":"Schrauwen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2025,2,4]]},"reference":[{"key":"2077_CR1","volume-title":"Epidermolysis bullosa: clinical, epidemiologic, and laboratory advances, and the findings of the National Epidermolysis Bullosa Registry","author":"JD Fine","year":"1999","unstructured":"Fine JD. Epidermolysis bullosa: clinical, epidemiologic, and laboratory advances, and the findings of the National Epidermolysis Bullosa Registry. Baltimore: Johns Hopkins University; 1999."},{"issue":"6","key":"2077_CR2","doi-asserted-by":"publisher","first-page":"931","DOI":"10.1016\/j.jaad.2008.02.004","volume":"58","author":"JD Fine","year":"2008","unstructured":"Fine JD, Eady RAJ, Bauer EA, Bauer JW, Bruckner-Tuderman L, Heagerty A, et al. The classification of inherited epidermolysis bullosa (EB): report of the Third International Consensus Meeting on diagnosis and classification of EB. J Am Acad Dermatol. 2008;58(6):931\u201350.","journal-title":"J Am Acad Dermatol"},{"issue":"1","key":"2077_CR3","doi-asserted-by":"publisher","first-page":"12","DOI":"10.1186\/1750-1172-5-12","volume":"5","author":"JD Fine","year":"2010","unstructured":"Fine JD. Inherited epidermolysis bullosa. Orphanet J Rare Dis. 2010;5(1):12.","journal-title":"Orphanet J Rare Dis"},{"issue":"6","key":"2077_CR4","doi-asserted-by":"publisher","first-page":"1103","DOI":"10.1016\/j.jaad.2014.01.903","volume":"70","author":"JD Fine","year":"2014","unstructured":"Fine JD, Bruckner-Tuderman L, Eady RAJ, Bauer EA, Bauer JW, Has C, et al. Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification. J Am Acad Dermatol. 2014;70(6):1103\u201326.","journal-title":"J Am Acad Dermatol"},{"issue":"4","key":"2077_CR5","doi-asserted-by":"publisher","first-page":"614","DOI":"10.1111\/bjd.18921","volume":"183","author":"C Has","year":"2020","unstructured":"Has C, Bauer JW, Bodemer C, Bolling MC, Bruckner-Tuderman L, Diem A, et al. Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility. Br J Dermatol. 2020;183(4):614\u201327.","journal-title":"Br J Dermatol"},{"issue":"3","key":"2077_CR6","doi-asserted-by":"publisher","first-page":"181","DOI":"10.1136\/jmg.2006.045302","volume":"44","author":"R Varki","year":"2006","unstructured":"Varki R, Sadowski S, Uitto J, Pfendner E. Epidermolysis Bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes. J Med Genet. 2006;44(3):181\u201392.","journal-title":"J Med Genet"},{"issue":"3","key":"2077_CR7","doi-asserted-by":"publisher","first-page":"285","DOI":"10.1007\/BF00561499","volume":"255","author":"I Hashimoto","year":"1976","unstructured":"Hashimoto I, Gedde-Dahl T, Schnyder UW, Anton-Lamprecht I. Ultrastructural studies in epidermolysis bullosa hereditaria: II. Dominant dystrophic type of cockayne and touraine. Arch Derm Res. 1976;255(3):285\u201395.","journal-title":"Arch Derm Res"},{"issue":"3","key":"2077_CR8","doi-asserted-by":"publisher","first-page":"167","DOI":"10.1007\/BF00557916","volume":"252","author":"I Hashimoto","year":"1975","unstructured":"Hashimoto I, Anton-Lamprecht I, Gedde-Dahl T, Schnyder UW. Ultrastructural studies in epidermolysis bullosa hereditaria: I. Dominant dystrophic type of pasini. Arch Derm Res. 1975;252(3):167\u201378.","journal-title":"Arch Derm Res"},{"issue":"3","key":"2077_CR9","doi-asserted-by":"publisher","first-page":"262","DOI":"10.2340\/00015555-1053","volume":"91","author":"J McGrath","year":"2011","unstructured":"McGrath J, Almaani N, Liu L, Dopping-Hepenstal P, Lai-Cheong J, Wong A, et al. Identical Glycine substitution mutations in type VII collagen May Underlie both Dominant and recessive forms of Dystrophic Epidermolysis Bullosa. Acta Derm Venerol. 2011;91(3):262\u20136.","journal-title":"Acta Derm Venerol"},{"issue":"2","key":"2077_CR10","doi-asserted-by":"publisher","first-page":"673","DOI":"10.1016\/S0006-291X(05)81118-0","volume":"180","author":"J Ryynanen","year":"1991","unstructured":"Ryynanen J, Sollberg S, Olsen DR, Uitto J. Transforming growth factor-\u03b2 up-regulates type VII collagen gene expression in normal and transformed epidermal keratinocytes in culture. Biochem Biophys Res Commun. 1991;180(2):673\u201380.","journal-title":"Biochem Biophys Res Commun"},{"issue":"6","key":"2077_CR11","first-page":"753","volume":"76","author":"H Shimizu","year":"1997","unstructured":"Shimizu H, Ishiko A, Masunaga T, Kurihara Y, Sato M, Bruckner-Tuderman L, et al. Most anchoring fibrils in human skin originate and terminate in the lamina densa. Lab Invest. 1997;76(6):753\u201363.","journal-title":"Lab Invest"},{"issue":"3","key":"2077_CR12","doi-asserted-by":"publisher","first-page":"692","DOI":"10.1016\/j.bbrc.2006.03.034","volume":"343","author":"R Brittingham","year":"2006","unstructured":"Brittingham R, Uitto J, Fertala A. High-affinity binding of the NC1 domain of collagen VII to laminin 5 and collagen IV. Biochem Biophys Res Commun. 2006;343(3):692\u20139.","journal-title":"Biochem Biophys Res Commun"},{"issue":"23","key":"2077_CR13","doi-asserted-by":"publisher","first-page":"14516","DOI":"10.1074\/jbc.272.23.14516","volume":"272","author":"M Chen","year":"1997","unstructured":"Chen M, Marinkovich MP, Veis A, Cai X, Rao CN, O\u2019Toole EA, et al. Interactions of the amino-terminal Noncollagenous (NC1) domain of type VII collagen with Extracellular Matrix Components. J Biol Chem. 1997;272(23):14516\u201322.","journal-title":"J Biol Chem"},{"key":"2077_CR14","doi-asserted-by":"crossref","unstructured":"Uitto J, Bruckner-Tuderman L, Christiano AM, McGrath JA, Has C, South AP et al. Progress toward Treatment and Cure of Epidermolysis Bullosa: Summary of the DEBRA International Research Symposium EB2015. Journal of Investigative Dermatology. 2016;136(2):352\u20138.","DOI":"10.1016\/j.jid.2015.10.050"},{"issue":"1","key":"2077_CR15","doi-asserted-by":"publisher","first-page":"72","DOI":"10.4103\/0972-124X.164760","volume":"20","author":"P Kudva","year":"2016","unstructured":"Kudva P, Jain R. Periodontal manifestation of epidermolysis bullosa: looking through the lens. J Indian Soc Periodontol. 2016;20(1):72.","journal-title":"J Indian Soc Periodontol"},{"issue":"1","key":"2077_CR16","doi-asserted-by":"publisher","first-page":"6","DOI":"10.5582\/irdr.2017.01005","volume":"6","author":"E Rashidghamat","year":"2017","unstructured":"Rashidghamat E, McGrath JA. Novel and emerging therapies in the treatment of recessive dystrophic epidermolysis bullosa. IRDR. 2017;6(1):6\u201320.","journal-title":"IRDR"},{"issue":"14","key":"2077_CR17","doi-asserted-by":"publisher","first-page":"1754","DOI":"10.1093\/bioinformatics\/btp324","volume":"25","author":"H Li","year":"2009","unstructured":"Li H, Durbin R. Fast and accurate short read alignment with Burrows\u2013Wheeler transform. Bioinformatics. 2009;25(14):1754\u201360.","journal-title":"Bioinformatics"},{"issue":"9","key":"2077_CR18","doi-asserted-by":"publisher","first-page":"1297","DOI":"10.1101\/gr.107524.110","volume":"20","author":"A McKenna","year":"2010","unstructured":"McKenna A, Hanna M, Banks E, Sivachenko A, Cibulskis K, Kernytsky A, et al. The genome analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res. 2010;20(9):1297\u2013303.","journal-title":"Genome Res"},{"issue":"16","key":"2077_CR19","doi-asserted-by":"publisher","first-page":"e164","DOI":"10.1093\/nar\/gkq603","volume":"38","author":"K Wang","year":"2010","unstructured":"Wang K, Li M, Hakonarson H. ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res. 2010;38(16):e164\u2013164.","journal-title":"Nucleic Acids Res"},{"issue":"7993","key":"2077_CR20","doi-asserted-by":"publisher","first-page":"92","DOI":"10.1038\/s41586-023-06045-0","volume":"625","author":"S Chen","year":"2024","unstructured":"Chen S, Francioli LC, Goodrich JK, Collins RL, Kanai M, Wang Q, et al. A genomic mutational constraint map using variation in 76,156 human genomes. Nature. 2024;625(7993):92\u2013100.","journal-title":"Nature"},{"issue":"8","key":"2077_CR21","doi-asserted-by":"publisher","first-page":"1525","DOI":"10.1101\/gr.138115.112","volume":"22","author":"N Krumm","year":"2012","unstructured":"Krumm N, Sudmant PH, Ko A, O\u2019Roak BJ, Malig M, Coe BP, et al. Copy number variation detection and genotyping from exome sequence data. Genome Res. 2012;22(8):1525\u201332.","journal-title":"Genome Res"},{"key":"2077_CR22","doi-asserted-by":"crossref","unstructured":"K\u00f5ressaar T, Lepamets M, Kaplinski L, Raime K, Andreson R, Remm M. Primer3_masker: integrating masking of template sequence with primer design software. Hancock J, editor. Bioinformatics. 2018;34(11):1937\u20138.","DOI":"10.1093\/bioinformatics\/bty036"},{"issue":"5","key":"2077_CR23","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","volume":"17","author":"S Richards","year":"2015","unstructured":"Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405\u201324.","journal-title":"Genet Med"},{"issue":"1","key":"2077_CR24","doi-asserted-by":"publisher","first-page":"189","DOI":"10.1073\/pnas.0136770100","volume":"100","author":"BP Lewis","year":"2003","unstructured":"Lewis BP, Green RE, Brenner SE. Evidence for the widespread coupling of alternative splicing and nonsense-mediated mRNA decay in humans. Proc Natl Acad Sci U S A. 2003;100(1):189\u201392.","journal-title":"Proc Natl Acad Sci U S A"},{"key":"2077_CR25","volume-title":"Brenner\u2019s encyclopedia of genetics","author":"K Hughes","year":"2013","unstructured":"Hughes K, Maloy SR. Brenner\u2019s encyclopedia of genetics. 2 ed. London [u.a.]: Academic, Elsevier Science;; 2013.","edition":"2"},{"issue":"2","key":"2077_CR26","doi-asserted-by":"publisher","first-page":"551","DOI":"10.1083\/jcb.131.2.551","volume":"131","author":"L Bruckner-Tuderman","year":"1995","unstructured":"Bruckner-Tuderman L, Nilssen O, Zimmermann DR, Dours-Zimmermann MT, Kalinke DU, Gedde-Dahl T, et al. Immunohistochemical and mutation analyses demonstrate that procollagen VII is processed to collagen VII through removal of the NC-2 domain. J Cell Biol. 1995;131(2):551\u20139.","journal-title":"J Cell Biol"},{"issue":"3","key":"2077_CR27","doi-asserted-by":"publisher","first-page":"252","DOI":"10.1111\/1523-1747.ep12365129","volume":"101","author":"RE Burgeson","year":"1993","unstructured":"Burgeson RE, Type VII, Collagen. Anchoring fibrils, and Epidermolysis Bullosa. J Invest Dermatology. 1993;101(3):252\u20135.","journal-title":"J Invest Dermatology"},{"issue":"3","key":"2077_CR28","doi-asserted-by":"publisher","first-page":"719","DOI":"10.1083\/jcb.138.3.719","volume":"138","author":"P Rousselle","year":"1997","unstructured":"Rousselle P, Keene DR, Ruggiero F, Champliaud MF, Rest MVD, Burgeson RE. Laminin 5 binds the NC-1 domain of type VII collagen. J Cell Biol. 1997;138(3):719\u201328.","journal-title":"J Cell Biol"},{"issue":"6","key":"2077_CR29","doi-asserted-by":"publisher","first-page":"947","DOI":"10.1111\/1523-1747.ep12296242","volume":"108","author":"Y-Y Lee","year":"1997","unstructured":"Lee Y-Y, Pulkkinen J, Liu L, Chen HS, Uitto YF. A Glycine-to-arginine substitution in the Triple-Helical Domain of Type VII Collagen in a family with Dominant Dystrophic Epidermolysis Bullosa Pruriginosa. J Invest Dermatology. 1997;108(6):947\u20139.","journal-title":"J Invest Dermatology"},{"issue":"1","key":"2077_CR30","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1111\/j.1600-0625.1996.tb00086.x","volume":"5","author":"AM Christiano","year":"1996","unstructured":"Christiano AM, Uitto J. Molecular complexity of the cutaneous basement membrane zone: revelations from the paradigms of epidermolysis bullosa. Exp Dermatol. 1996;5(1):1\u201311.","journal-title":"Exp Dermatol"},{"issue":"5","key":"2077_CR31","doi-asserted-by":"publisher","first-page":"620","DOI":"10.3390\/biom11050620","volume":"11","author":"FF Khan","year":"2021","unstructured":"Khan FF, Khan N, Rehman S, Ejaz A, Ali U, Erfan M, et al. Identification and computational analysis of Novel pathogenic variants in Pakistani families with diverse Epidermolysis Bullosa Phenotypes. Biomolecules. 2021;11(5):620.","journal-title":"Biomolecules"},{"issue":"7","key":"2077_CR32","doi-asserted-by":"publisher","first-page":"1525","DOI":"10.3390\/diagnostics12071525","volume":"12","author":"F Fozia","year":"2022","unstructured":"Fozia F, Nazli R, Alrashed MM, Ghneim HK, Haq ZU, Jabeen M, et al. Detection of Novel Biallelic causative variants in COL7A1 gene by whole-exome sequencing, resulting in congenital recessive Dystrophic Epidermolysis Bullosa in three unrelated families. Diagnostics. 2022;12(7):1525.","journal-title":"Diagnostics"},{"issue":"4","key":"2077_CR33","first-page":"682","volume":"58","author":"AM Christiano","year":"1996","unstructured":"Christiano AM, Anton-Lamprecht I, Amano S, Ebschner U, Burgeson RE, Uitto J. 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. Am J Hum Genet. 1996;58(4):682\u201393.","journal-title":"Am J Hum Genet"}],"container-title":["BMC Medical Genomics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12920-024-02077-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s12920-024-02077-1\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12920-024-02077-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,2,4]],"date-time":"2025-02-04T17:32:28Z","timestamp":1738690348000},"score":1,"resource":{"primary":{"URL":"https:\/\/bmcmedgenomics.biomedcentral.com\/articles\/10.1186\/s12920-024-02077-1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,2,4]]},"references-count":33,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2025,12]]}},"alternative-id":["2077"],"URL":"https:\/\/doi.org\/10.1186\/s12920-024-02077-1","relation":{},"ISSN":["1755-8794"],"issn-type":[{"value":"1755-8794","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,2,4]]},"assertion":[{"value":"9 November 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"23 December 2024","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"4 February 2025","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The research study was approved by Institutional review board of Hazara University, Mansehra, Pakistan (IF.No.HU\/ORIC\/2023\/1230) and Columbia University New York, USA (AAAS3431). Informed written consent was taken from participating members of family. Blood sampling from unaffected and affected individuals were carried out according to guidelines provided by Declaration of Helsinki.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"We hereby provide our explicit consent for the publication of our research materials, including clinical details and images, on behalf of patients who have given written consent for publication, subject to approval by the Board of BMC Medical Genomics.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"26"}}