{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T10:01:59Z","timestamp":1753869719861,"version":"3.41.2"},"reference-count":26,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2022,2,28]],"date-time":"2022-02-28T00:00:00Z","timestamp":1646006400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2022,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Dystrophic epidermolysis bullosa (DEB) is a series of severe genetic conditions affecting skin and nails caused by mutations in the <jats:italic>COL7A1<\/jats:italic> gene. DEB has a strong phenotypic variability. In the present study, we recruited a case with a boy exhibiting typical DEB indication, and performed a clinical, genetic, and experimental investigation, followed by a prenatal diagnosis on their current pregnancy. Whole exome sequencing identified a novel compound heterozygous variation in <jats:italic>COL7A1<\/jats:italic>, consisting of two variants, namely c.191T&gt;C (p.Leu64Pro) and c.5124G&gt;A (p.Leu1708=) in the proband. In vitro study by minigene system indicated that c.5124G&gt;A would result in an increased ratio of a transcript with exon\u2010skipping, which supported its pathogenicity. Further prenatal detection confirmed the genotype\u2013phenotye co\u2010separation in this family. In conclusion, the findings in our study expanded the mutation spectrum of DEB, and emphasized the importance of paying attention to specific synonymous variants in the filtering process.<\/jats:p>","DOI":"10.1002\/mgg3.1907","type":"journal-article","created":{"date-parts":[[2022,2,28]],"date-time":"2022-02-28T12:05:10Z","timestamp":1646049910000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Whole exome sequencing identified a novel compound heterozygous variation in <scp><i>COL7A1<\/i><\/scp> gene causing dystrophic epidermolysis bullosa"],"prefix":"10.1002","volume":"10","author":[{"given":"Li\u2010min","family":"Cui","sequence":"first","affiliation":[{"name":"Prenatal Diagnosis Center, Langfang Maternal and Child Health Care Hospital  Langfang China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jian\u2010ye","family":"Jiang","sequence":"additional","affiliation":[{"name":"Prenatal Diagnosis Center, Langfang Maternal and Child Health Care Hospital  Langfang China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ning\u2010ning","family":"Hu","sequence":"additional","affiliation":[{"name":"Prenatal Diagnosis Center, Langfang Maternal and Child Health Care Hospital  Langfang China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hong\u2010en","family":"Zou","sequence":"additional","affiliation":[{"name":"Prenatal Diagnosis Center, Langfang Maternal and Child Health Care Hospital  Langfang China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bao\u2010zhen","family":"Zhao","sequence":"additional","affiliation":[{"name":"Prenatal Diagnosis Center, Langfang Maternal and Child Health Care Hospital  Langfang China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cong\u2010ying","family":"Han","sequence":"additional","affiliation":[{"name":"Prenatal Diagnosis Center, Langfang Maternal and Child Health Care Hospital  Langfang China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7457-3106","authenticated-orcid":false,"given":"Kai","family":"Yang","sequence":"additional","affiliation":[{"name":"Prenatal Diagnosis Center, Beijing Obstetrics and Gynecology Hospital, Capital Medical University  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yi\u2010peng","family":"Wang","sequence":"additional","affiliation":[{"name":"Prenatal Diagnosis Center, Beijing Obstetrics and Gynecology Hospital, Capital Medical University  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7175-5019","authenticated-orcid":false,"given":"Huan\u2010xia","family":"Xing","sequence":"additional","affiliation":[{"name":"Prenatal Diagnosis Center, Langfang Maternal and Child Health Care Hospital  Langfang China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,2,28]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.2340\/00015555-1053"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/9781119061199"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1749-6632.1985.tb51156.x"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0593-62"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2011.10414.x"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.det.2009.12.001"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamadermatol.2016.2473"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2014.01.903"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/jcmm.16608"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.3390\/biom11050620"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/0190-9622(93)70277-Z"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btp324"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/pde.13392"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1159\/isbn.978-3-318-05979-3"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/ajd.12665"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1111\/1523-1747.ep12606999"},{"volume-title":"GeneReviews\u00ae [Internet]","year":"2006","author":"Pfendner E. 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