{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,20]],"date-time":"2025-05-20T04:08:33Z","timestamp":1747714113613,"version":"3.40.5"},"reference-count":13,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2024,10,3]],"date-time":"2024-10-03T00:00:00Z","timestamp":1727913600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","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":[[2025,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Autosomal recessive congenital ichthyosis (ARCI) comprises a series of non\u2010syndromic ichthyoses. Pathogenic variants in several genes associated with ARCI have so far been identified. Notably, the variants in <jats:italic>ABCA12<\/jats:italic> play a pivotal role in the pathology of ARCI. In this study, we report three Chinese families with compound heterozygous variants in the <jats:italic>ABCA12<\/jats:italic> gene, including two novel variants and four reported variants. Clinical and genetic analyses were conducted to explore the genotype\u2013phenotype correlation among the patients. Immunohistochemistry and transcriptome sequencing were utilized to assess the impact of pathogenic <jats:italic>ABCA12<\/jats:italic> variants on skin homeostasis, revealing decreased levels of ABCA12 and claudin\u20101, alongside increased levels of involucrin and S100A8. In conclusion, our findings contribute to updating the genotype\u2013phenotypic correlation and provide additional evidence for the long\u2010term use of retinoic acid drugs in patients with causative <jats:italic>ABCA12<\/jats:italic> variants.<\/jats:p>","DOI":"10.1111\/1346-8138.17484","type":"journal-article","created":{"date-parts":[[2024,10,3]],"date-time":"2024-10-03T10:03:16Z","timestamp":1727949796000},"page":"520-525","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Clinical and genetic insights into <scp><i>ABCA12<\/i><\/scp> variants in three Chinese families with ichthyosis: Genotype\u2013phenotype correlation"],"prefix":"10.1111","volume":"52","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2183-4798","authenticated-orcid":false,"given":"Bing","family":"Wang","sequence":"first","affiliation":[{"name":"Department of Dermatology, Xinhua Hospital, School of Medicine Shanghai Jiao Tong University  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