{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,9]],"date-time":"2026-07-09T20:12:45Z","timestamp":1783627965063,"version":"3.55.0"},"reference-count":15,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2020,6,21]],"date-time":"2020-06-21T00:00:00Z","timestamp":1592697600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2020,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Epidermolysis bullosa (EB) is a heritable blistering disorder. We performed a next\u2010generation sequencing\u2010based multigene panel test and successfully predicted 100% of the EB types, including, 36 EB simplex (EBS), 13 junctional EB (JEB), 86 dystrophic EB (DEB), and 3 Kindler EB. Chinese JEB and recessive DEB (RDEB) patients have relatively mild phenotypes; for severe type separately accounts for 45.5% and 23.8%, respectively. We identified 96 novel and 49 recurrent pathogenic variants in 11 genes, although we failed to detect the second mutation in one JEB and five RDEB patients. We identified one novel p.E475K mosaic mutation in the clinically normal mother of one out of 13 EBS patients with <jats:italic>KRT5<\/jats:italic> mutations, one recurrent p.G2034R mosaic mutation, and one novel p.G2043R mosaic mutation in the clinically normal relatives of two out of 19 dominant DEB patients. This study shows that next\u2010generation technology could be an effective tool in diagnosing EB.<\/jats:p>","DOI":"10.1111\/cge.13791","type":"journal-article","created":{"date-parts":[[2020,6,2]],"date-time":"2020-06-02T10:07:45Z","timestamp":1591092465000},"page":"179-184","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Next\u2010generation sequencing through multigene panel testing for the diagnosis of hereditary epidermolysis bullosa in Chinese population"],"prefix":"10.1111","volume":"98","author":[{"given":"Fuying","family":"Chen","sequence":"first","affiliation":[{"name":"Department of Dermatology Xinhua Hospital, Shanghai Jiaotong University School of Medicine  Shanghai China"},{"name":"Institute of Dermatology Shanghai Jiaotong University School of Medicine  Shanghai 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