{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T16:00:01Z","timestamp":1756310401089,"version":"3.41.2"},"reference-count":11,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2020,9,2]],"date-time":"2020-09-02T00:00:00Z","timestamp":1599004800000},"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;amp; Gen Med"],"published-print":{"date-parts":[[2020,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Superficial epidermolytic ichthyosis (SEI), known as ichthyosis bullosa of Siemens (IBS; OMIM No. 146800) before, is a type of keratinopathic ichthyosis due to the <jats:italic>KRT2<\/jats:italic> mutations (NM_000423.3; OMIM No. 600194). Here, we report the first case of SEI caused by a <jats:italic>KRT2<\/jats:italic> mosaic mutation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We presented the clinical data of a 5\u2010year\u2010old Chinese boy who suffered from SEI. The histopathological examination and immunofluorescence were performed to rule out immunobullous skin diseases and diseases with subepidermal blisters. Genomic DNA samples were extracted from the lesion tissue and next\u2010generation sequencing was performed. We also confirmed the variant allele frequency (VAF) in different tissues by an Ultra\u2010Deep Sequencing technology.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The patient presented with blisters on the lower extremities and linear, superficially hyperkeratotic lesions. Immunofluorescence of IgG, IgA, IgM, C3, C4, and C1q were negative, and the histopathological results showed intraepidermal blisters containing lymphocytes and eosinophils. A heterozygous missense mutation, c.G1459A (p. Glu487Lys), in exon 7 of the <jats:italic>KRT2<\/jats:italic> gene was detected at a 31.17% allele frequency. The same mutation p. Glu487Lys has been described several times in the literature.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Thus, in our patient, the mosaic mutation explains the blaschkoid ichthyosiform phenotype. To our knowledge, this is the first case of SEI with a <jats:italic>KRT2<\/jats:italic> mosaic mutation.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1457","type":"journal-article","created":{"date-parts":[[2020,9,3]],"date-time":"2020-09-03T02:27:11Z","timestamp":1599100031000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["The first case of a mosaic superficial epidermolytic ichthyosis diagnosed by Ultra\u2010Deep Sequence"],"prefix":"10.1002","volume":"8","author":[{"given":"Yue","family":"Li","sequence":"first","affiliation":[{"name":"Department of Dermatology Xinhua Hospital Shanghai China"},{"name":"Institute of Dermatology Shanghai Jiaotong University School of Medicine Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ruhong","family":"Cheng","sequence":"additional","affiliation":[{"name":"Department of Dermatology Xinhua Hospital Shanghai China"},{"name":"Institute of Dermatology Shanghai Jiaotong University School of Medicine Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jianying","family":"Liang","sequence":"additional","affiliation":[{"name":"Department of Dermatology Xinhua Hospital Shanghai China"},{"name":"Institute of Dermatology Shanghai Jiaotong University School of Medicine Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhirong","family":"Yao","sequence":"additional","affiliation":[{"name":"Department of Dermatology Xinhua Hospital Shanghai China"},{"name":"Institute of Dermatology Shanghai Jiaotong University School of Medicine Shanghai China"},{"name":"Center for Rare Disease Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3053-2756","authenticated-orcid":false,"given":"Ming","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Dermatology Xinhua Hospital Shanghai China"},{"name":"Institute of Dermatology Shanghai Jiaotong University School of Medicine Shanghai China"},{"name":"Center for Rare Disease Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,9,2]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jdermsci.2015.04.006"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2014.197"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37439"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.2340\/00015555\u20102299"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365\u20102133.2007.07832.x"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.16435"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0894\u2010485"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1684\/ejd.2017.3158"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1600\u20100625.2000.009001011.x"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/1346\u20108138.13243"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365\u20102133.2001.04327.x"}],"container-title":["Molecular Genetics &amp; Genomic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.1457","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mgg3.1457","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.1457","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,2,21]],"date-time":"2024-02-21T11:58:32Z","timestamp":1708516712000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mgg3.1457"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,9,2]]},"references-count":11,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2020,11]]}},"alternative-id":["10.1002\/mgg3.1457"],"URL":"https:\/\/doi.org\/10.1002\/mgg3.1457","archive":["Portico"],"relation":{},"ISSN":["2324-9269","2324-9269"],"issn-type":[{"type":"print","value":"2324-9269"},{"type":"electronic","value":"2324-9269"}],"subject":[],"published":{"date-parts":[[2020,9,2]]},"assertion":[{"value":"2020-04-14","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-07-31","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-09-02","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e1457"}}