{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,13]],"date-time":"2026-02-13T13:37:58Z","timestamp":1770989878052,"version":"3.50.1"},"reference-count":19,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2022,6,18]],"date-time":"2022-06-18T00:00:00Z","timestamp":1655510400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2022,6,18]],"date-time":"2022-06-18T00:00:00Z","timestamp":1655510400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"name":"the National Key Research and Development Program of China","award":["2018YFC1004900"],"award-info":[{"award-number":["2018YFC1004900"]}]},{"name":"the National Key Research and Development Program of China","award":["2018YFC1005002"],"award-info":[{"award-number":["2018YFC1005002"]}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81872225"],"award-info":[{"award-number":["81872225"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Special Project of Family Planning","award":["18JS003"],"award-info":[{"award-number":["18JS003"]}]},{"name":"Projects of National Basic Strenthening Plan","award":["2017-JCJQ-ZD-051-01"],"award-info":[{"award-number":["2017-JCJQ-ZD-051-01"]}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Med Genomics"],"published-print":{"date-parts":[[2022,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>Uniparental disomy (UPD) is a condition in which both chromosomes are inherited from the same parent, except for imprinting disorders. Uniparental isodisomy (UPiD) may result in a homozygous variant contributing to an autosomal recessive disorder in the offspring of a heterozygous carrier. Junctional epidermolysis bullosa intermediate (JEB intermediate) is an autosomal recessive inherited disease that is associated with a series of gene variants, including those of <jats:italic>COL17A1<\/jats:italic>.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Case presentation<\/jats:title>\n                <jats:p>We report the first case of complete paternal UPiD of chromosome 10 harbouring a novel homozygous variant in <jats:italic>COL17A1<\/jats:italic>: c.1880(exon23)delG (p.G627Afs*56). This variant led to the clinical phenotype of junctional epidermolysis bullosa intermediate in a 5-year-old child. Trio-whole exome sequencing (Trio-WES) and in silico data analysis were used for variant identification, Sanger sequencing was performed for variant validation, and pathological examination was performed as the gold standard for phenotype confirmation.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>We recommend the use of WES as a first-tier test for the diagnosis of epidermolysis bullosa, especially for paediatric patients. Moreover, UPD events should be detected and analysed routinely through WES data in the future.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s12920-022-01285-x","type":"journal-article","created":{"date-parts":[[2022,6,18]],"date-time":"2022-06-18T11:02:38Z","timestamp":1655550158000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["First case report of complete paternal isodisomy of chromosome 10 harbouring a novel variant in COL17A1 that causes junctional epidermolysis bullosa intermediate"],"prefix":"10.1186","volume":"15","author":[{"given":"Yao","family":"Wang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dong","family":"Yu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wei","family":"Wei","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hao","family":"Zheng","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ming-Hua","family":"Liu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Long","family":"Ma","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Li-Na","family":"Qin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Neng-Zhuang","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jia-Xi","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jin-Jiang","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xin-Ling","family":"Bi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hong-Li","family":"Yan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2022,6,18]]},"reference":[{"issue":"4","key":"1285_CR1","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":"1","key":"1285_CR2","doi-asserted-by":"publisher","first-page":"94","DOI":"10.1111\/bjd.13190","volume":"172","author":"T Takeichi","year":"2015","unstructured":"Takeichi T, Liu L, Fong K, Ozoemena L, McMillan JR, Salam A, et al. Whole-exome sequencing improves mutation detection in a diagnostic epidermolysis bullosa laboratory. Br J Dermatol. 2015;172(1):94\u2013100.","journal-title":"Br J Dermatol"},{"issue":"4","key":"1285_CR3","doi-asserted-by":"publisher","first-page":"803","DOI":"10.1038\/s41436-019-0704-x","volume":"22","author":"K Yauy","year":"2020","unstructured":"Yauy K, de Leeuw N, Yntema HG, Pfundt R, Gilissen C. Accurate detection of clinically relevant uniparental disomy from exome sequencing data. Genet Med. 2020;22(4):803\u20138.","journal-title":"Genet Med"},{"issue":"2","key":"1285_CR4","doi-asserted-by":"publisher","first-page":"267","DOI":"10.1016\/j.ajhg.2017.01.004","volume":"100","author":"Q Li","year":"2017","unstructured":"Li Q, Wang K. InterVar: Clinical Interpretation of Genetic Variants by the 2015 ACMG-AMP Guidelines. Am J Hum Genet. 2017;100(2):267\u201380.","journal-title":"Am J Hum Genet"},{"issue":"9","key":"1285_CR5","doi-asserted-by":"publisher","first-page":"2039","DOI":"10.1038\/sj.jid.5700348","volume":"126","author":"H Fassihi","year":"2006","unstructured":"Fassihi H, Lu L, Wessagowit V, Ozoemena LC, Jones CA, Dopping-Hepenstal PJ, et al. Complete maternal isodisomy of chromosome 3 in a child with recessive dystrophic epidermolysis bullosa but no other phenotypic abnormalities. J Invest Dermatol. 2006;126(9):2039\u201343.","journal-title":"J Invest Dermatol"},{"issue":"5","key":"1285_CR6","doi-asserted-by":"publisher","first-page":"306","DOI":"10.1080\/09546630701528479","volume":"18","author":"KL Hon","year":"2007","unstructured":"Hon KL, Burd A, Choi PC, Luk NM. Epidermolysis bullosa in three Chinese neonates. J Dermatolog Treat. 2007;18(5):306\u201311.","journal-title":"J Dermatolog Treat"},{"issue":"11","key":"1285_CR7","doi-asserted-by":"publisher","first-page":"2671","DOI":"10.1038\/jid.2010.182","volume":"130","author":"K Natsuga","year":"2010","unstructured":"Natsuga K, Nishie W, Arita K, Shinkuma S, Nakamura H, Kubota S, et al. Complete paternal isodisomy of chromosome 17 in junctional epidermolysis bullosa with pyloric atresia. J Invest Dermatol. 2010;130(11):2671\u20134.","journal-title":"J Invest Dermatol"},{"issue":"1","key":"1285_CR8","doi-asserted-by":"publisher","first-page":"71","DOI":"10.1111\/j.1365-2230.2004.01660.x","volume":"30","author":"H Fassihi","year":"2005","unstructured":"Fassihi H, Wessagowit V, Ashton GH, Moss C, Ward R, Denyer J, et al. Complete paternal uniparental isodisomy of chromosome 1 resulting in Herlitz junctional epidermolysis bullosa. Clin Exp Dermatol. 2005;30(1):71\u20134.","journal-title":"Clin Exp Dermatol"},{"issue":"2","key":"1285_CR9","doi-asserted-by":"publisher","first-page":"307","DOI":"10.1046\/j.1523-1747.2000.00052.x","volume":"115","author":"Y Takizawa","year":"2000","unstructured":"Takizawa Y, Pulkkinen L, Chao SC, Nakajima H, Nakano Y, Shimizu H, et al. Mutation report: complete paternal uniparental isodisomy of chromosome 1: a novel mechanism for Herlitz junctional epidermolysis bullosa. J Invest Dermatol. 2000;115(2):307\u201311.","journal-title":"J Invest Dermatol"},{"issue":"7","key":"1285_CR10","doi-asserted-by":"publisher","first-page":"1133","DOI":"10.1038\/s41436-020-0782-9","volume":"22","author":"D Del Gaudio","year":"2020","unstructured":"Del Gaudio D, Shinawi M, Astbury C, Tayeh MK, Deak KL, Raca G, et al. Diagnostic testing for uniparental disomy: a points to consider statement from the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2020;22(7):1133\u201341.","journal-title":"Genet Med"},{"key":"1285_CR11","doi-asserted-by":"publisher","DOI":"10.1007\/978-3-642-55288-5","volume-title":"Uniparental disomy (UPD) in clinical genetics: a guide for clinicians and patients","author":"T Liehr","year":"2014","unstructured":"Liehr T. Uniparental disomy (UPD) in clinical genetics: a guide for clinicians and patients. Berlin: Springer; 2014."},{"issue":"6","key":"1285_CR12","doi-asserted-by":"publisher","first-page":"2247","DOI":"10.3892\/etm.2016.3241","volume":"11","author":"N Li","year":"2016","unstructured":"Li N, Ding YU, Yu T, Li J, Shen Y, Wang X, et al. Causal variants screened by whole exome sequencing in a patient with maternal uniparental isodisomy of chromosome 10 and a complicated phenotype. Exp Ther Med. 2016;11(6):2247\u201353.","journal-title":"Exp Ther Med"},{"issue":"3","key":"1285_CR13","doi-asserted-by":"publisher","first-page":"574","DOI":"10.1111\/bjd.18128","volume":"182","author":"C Has","year":"2020","unstructured":"Has C, Liu L, Bolling MC, Charlesworth AV, El Hachem M, Esc\u00e1mez MJ, et al. Clinical practice guidelines for laboratory diagnosis of epidermolysis bullosa. Br J Dermatol. 2020;182(3):574\u201392.","journal-title":"Br J Dermatol"},{"key":"1285_CR14","doi-asserted-by":"publisher","first-page":"91","DOI":"10.1016\/j.matbio.2018.11.006","volume":"81","author":"H Vahidnezhad","year":"2019","unstructured":"Vahidnezhad H, Youssefian L, Saeidian AH, Touati A, Pajouhanfar S, Baghdadi T, et al. Mutations in PLOD3, encoding lysyl hydroxylase 3, cause a complex connective tissue disorder including recessive dystrophic epidermolysis bullosa-like blistering phenotype with abnormal anchoring fibrils and type VII collagen deficiency. Matrix Biol. 2019;81:91\u2013106.","journal-title":"Matrix Biol"},{"issue":"12","key":"1285_CR15","doi-asserted-by":"publisher","first-page":"2649","DOI":"10.1016\/j.jid.2017.07.830","volume":"137","author":"H Vahidnezhad","year":"2017","unstructured":"Vahidnezhad H, Youssefian L, Saeidian AH, Touati A, Sotoudeh S, Abiri M, et al. Multigene next-generation sequencing panel identifies pathogenic variants in patients with unknown subtype of epidermolysis bullosa: subclassification with prognostic implications. J Invest Dermatol. 2017;137(12):2649\u201352.","journal-title":"J Invest Dermatol"},{"issue":"12","key":"1285_CR16","doi-asserted-by":"publisher","first-page":"1508","DOI":"10.1038\/ng.3701","volume":"48","author":"Z Lin","year":"2016","unstructured":"Lin Z, Li S, Feng C, Yang S, Wang H, Ma D, et al. Stabilizing mutations of KLHL24 ubiquitin ligase cause loss of keratin 14 and human skin fragility. Nat Genet. 2016;48(12):1508\u201316.","journal-title":"Nat Genet"},{"issue":"10","key":"1285_CR17","doi-asserted-by":"publisher","first-page":"1349","DOI":"10.1002\/humu.23592","volume":"39","author":"H Vahidnezhad","year":"2018","unstructured":"Vahidnezhad H, Youssefian L, Saeidian AH, Touati A, Sotoudeh S, Jazayeri A, et al. Next generation sequencing identifies double homozygous mutations in two distinct genes (EXPH5 and COL17A1) in a patient with concomitant simplex and junctional epidermolysis bullosa. Hum Mutat. 2018;39(10):1349\u201354.","journal-title":"Hum Mutat"},{"issue":"5","key":"1285_CR18","doi-asserted-by":"publisher","first-page":"452","DOI":"10.1002\/(SICI)1521-1878(200005)22:5<452::AID-BIES7>3.0.CO;2-K","volume":"22","author":"WP Robinson","year":"2000","unstructured":"Robinson WP. Mechanisms leading to uniparental disomy and their clinical consequences. BioEssays. 2000;22(5):452\u20139.","journal-title":"BioEssays"},{"issue":"8","key":"1285_CR19","doi-asserted-by":"publisher","first-page":"1823","DOI":"10.1002\/ajmg.a.32973","volume":"149A","author":"MC Keller","year":"2009","unstructured":"Keller MC, McRae AF, McGaughran JM, Visscher PM, Martin NG, Montgomery GW. Non-pathological paternal isodisomy of chromosome 2 detected from a genome-wide SNP scan. Am J Med Genet A. 2009;149A(8):1823\u20136.","journal-title":"Am J Med Genet A"}],"container-title":["BMC Medical Genomics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12920-022-01285-x.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s12920-022-01285-x\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12920-022-01285-x.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,6,18]],"date-time":"2022-06-18T11:04:07Z","timestamp":1655550247000},"score":1,"resource":{"primary":{"URL":"https:\/\/bmcmedgenomics.biomedcentral.com\/articles\/10.1186\/s12920-022-01285-x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,6,18]]},"references-count":19,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2022,12]]}},"alternative-id":["1285"],"URL":"https:\/\/doi.org\/10.1186\/s12920-022-01285-x","relation":{},"ISSN":["1755-8794"],"issn-type":[{"value":"1755-8794","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,6,18]]},"assertion":[{"value":"30 May 2021","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"10 June 2022","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"18 June 2022","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"This study was approved by the ethics committee of Changhai Hospital. Written informed consent was obtained from the patient\u2019s parents.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Written informed consent was obtained from the patient\u2019s parents for publication of this case report and any accompanying images. A copy of the written consent is available for review by the Editor of this journal.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent to publish"}}],"article-number":"136"}}