{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,3]],"date-time":"2026-06-03T06:08:35Z","timestamp":1780466915819,"version":"3.54.1"},"reference-count":33,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2026,4,10]],"date-time":"2026-04-10T00:00:00Z","timestamp":1775779200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,4,10]],"date-time":"2026-04-10T00:00:00Z","timestamp":1775779200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82373459"],"award-info":[{"award-number":["82373459"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82373500"],"award-info":[{"award-number":["82373500"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["The Journal of Dermatology"],"published-print":{"date-parts":[[2026,6]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Autosomal recessive congenital ichthyosis (ARCI) belongs to a heterogeneous group of nonsyndromic epidermal differentiation disorders (nEDD). Variants in\n                    <jats:italic>PNPLA1<\/jats:italic>\n                    , which encodes a transacylase essential for the formation of epidermal lipid barrier, underlie ARCI10. This study aims to unveil the underlying genetic basis in ten Chinese cases diagnosed with ARCI, and to determine the origin of a prevalent variant. Ten cases, encompassing twelve patients with ARCI, were recruited for this study. Whole\u2010exome sequencing combined with Sanger sequencing was used to detect the underlying variants. Haplotype analysis using flanking highly polymorphic SNPs was used to trace the origin of the c.1300delG variant in the\n                    <jats:italic>PNPLA1<\/jats:italic>\n                    gene. All patients developed generalized fine scales and erythema shortly after birth. Marked phenotypic heterogeneity was observed among the affected individuals, leading to diagnosis of\u00a0either generalized or localized nEDD. In total, we detected three recurrent variants (c.1300delG, p.A434Hfs*22; c.434\u2009T\u2009&gt;\u2009C, p.Ile145Thr; c.488C\u2009&gt;\u2009T, p.Pro163Leu) and five novel variants (c.205\u2009+\u20091G\u2009&gt;\u2009A, splicing; c.74C\u2009&gt;\u2009T, p.Ser25Phe; c.473G\u2009&gt;\u2009A, p.Cys158Tyr; c.731A\u2009&gt;\u2009G, p.Tyr244Cys; c.1318C\u2009&gt;\u2009T, p.Arg440*) in\n                    <jats:italic>PNPLA1<\/jats:italic>\n                    . The c.1300delG variant, prevalent in 7 unrelated ARCI cases, was associated with a common haplotype. Furthermore, we presented the beneficial effect of secukinumab treatment in one of our patients. Our findings suggest that the c.1300delG variant is a highly prevalent variant in Chinese\n                    <jats:italic>PNPLA1<\/jats:italic>\n                    \u2010associated nEDD patients, and indicate that the recurrent variant may originate from a common ancestor in southern China, suggesting a regional founder effect. The observed response with secukinumab in one patient suggests that it might represent a potential therapeutic option for\n                    <jats:italic>PNPLA1<\/jats:italic>\n                    \u2010nEDD patients.\n                  <\/jats:p>","DOI":"10.1111\/1346-8138.70252","type":"journal-article","created":{"date-parts":[[2026,4,11]],"date-time":"2026-04-11T05:51:10Z","timestamp":1775886670000},"page":"896-904","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Mutation Analysis in Ten Cases With\n                    <scp>\n                      <i>PNPLA1<\/i>\n                    <\/scp>\n                    \u2010Nonsyndromic Epidermal Differentiation Disorder: Evidence of a Founder Effect"],"prefix":"10.1111","volume":"53","author":[{"given":"Yunran","family":"Peng","sequence":"first","affiliation":[{"name":"Dermatology Hospital Southern Medical University  Guangzhou China"},{"name":"The First School of Clinical Medicine Southern Medical University  Guangzhou Guangdong China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yang","family":"Guan","sequence":"additional","affiliation":[{"name":"Shenzhen Center for Chronic Disease Control Shenzhen Dermatology Hospital  Shenzhen China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kunlun","family":"Lv","sequence":"additional","affiliation":[{"name":"Dermatology Hospital Southern Medical University  Guangzhou China"},{"name":"The First School of Clinical Medicine Southern Medical University  Guangzhou Guangdong China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chao","family":"Yang","sequence":"additional","affiliation":[{"name":"Dermatology Hospital Southern Medical University  Guangzhou China"},{"name":"The First School of Clinical Medicine Southern Medical University  Guangzhou Guangdong 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