{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,23]],"date-time":"2025-10-23T11:11:32Z","timestamp":1761217892181},"reference-count":23,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2016,9,8]],"date-time":"2016-09-08T00:00:00Z","timestamp":1473292800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The Journal of Dermatology"],"published-print":{"date-parts":[[2017,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Junctional epidermolysis bullosa with pyloric atresia (PA\u2010JEB) is a rare congenital bullous disease with gastrointestinal disturbance that has been associated with mutations in <jats:italic>ITGA6<\/jats:italic> or <jats:italic>ITGB4<\/jats:italic> encoding the \u03b16 or \u03b24 subunit of integrin, respectively. Only six <jats:italic>ITGA6<\/jats:italic> mutations in PA\u2010JEB have been reported while many <jats:italic>ITGB4<\/jats:italic> mutations have been identified, and all the <jats:italic>ITGA6<\/jats:italic> mutations were homozygous. Here, we report a case of lethal type PA\u2010JEB, in which immunofluorescence showed the lack of both \u03b16 and \u03b24 integrins resulting from compound heterozygous splice site mutation in <jats:italic>ITGA6<\/jats:italic>, c.387G&gt;T and c.2506\u20101G&gt;C. Maternal c.387G&gt;T induced the skipping of the entire exon 3 and both exons 3 and 4, resulting in premature termination codon and in\u2010frame deletion, respectively. Paternal c.2506\u20101G&gt;C caused the skipping of the exon 20 and resulted in in\u2010frame deletion. As a reason why the present case showed lethal phenotype despite the in\u2010frame deletion mutation, rapid degradation of neo\u2010synthesized \u03b16 protein and\/or impaired transport of integrin were suggested from previous reports, and the lack of localization of integrin \u03b16\u03b24 to the epidermal basement membrane resulted in skin fragility. Our case expands the variety of integrin \u03b16 mutations in PA\u2010JEB.<\/jats:p>","DOI":"10.1111\/1346-8138.13575","type":"journal-article","created":{"date-parts":[[2016,9,8]],"date-time":"2016-09-08T12:33:03Z","timestamp":1473337983000},"page":"160-166","source":"Crossref","is-referenced-by-count":11,"title":["Compound heterozygosity for novel splice site mutations of <i>ITGA6<\/i> in lethal junctional epidermolysis bullosa with pyloric atresia"],"prefix":"10.1111","volume":"44","author":[{"given":"Takuji","family":"Masunaga","sequence":"first","affiliation":[{"name":"Department of Dermatology Keio University School of Medicine Tokyo Japan"},{"name":"Research Laboratory KOS\u00c9 Corporation Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Junki","family":"Ogawa","sequence":"additional","affiliation":[{"name":"Department of Dermatology Keio University School of Medicine Tokyo Japan"},{"name":"Ogawa Skin Clinic Kyoto Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masashi","family":"Akiyama","sequence":"additional","affiliation":[{"name":"Department of Dermatology Nagoya University Graduate School of Medicine Nagoya Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takeji","family":"Nishikawa","sequence":"additional","affiliation":[{"name":"Department of Dermatology Keio University School of Medicine Tokyo Japan"},{"name":"Samoncho Dermatological Clinic Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroshi","family":"Shimizu","sequence":"additional","affiliation":[{"name":"Department of Dermatology Hokkaido University Graduate School of Medicine Sapporo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Akira","family":"Ishiko","sequence":"additional","affiliation":[{"name":"Department of Dermatology Keio University School of Medicine Tokyo Japan"},{"name":"Department of Dermatology School of Medicine Faculty of Medicine Toho University Tokyo 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