{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,8]],"date-time":"2026-03-08T19:55:58Z","timestamp":1772999758627,"version":"3.50.1"},"reference-count":48,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2026,2,6]],"date-time":"2026-02-06T00:00:00Z","timestamp":1770336000000},"content-version":"vor","delay-in-days":5,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,2,1]],"date-time":"2026-02-01T00:00:00Z","timestamp":1769904000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Case Reports"],"published-print":{"date-parts":[[2026,2]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Harlequin ichthyosis (HI) is an uncommon and extremely severe hereditary condition that primarily affects the skin. Infants born with this disorder display dense skin and prominent diamond\u2010shaped plates that cover a significant portion of their bodies. Infants with this disease have difficulty regulating body temperature and maintaining hydration, leading to respiratory failure and feeding problems, making them more vulnerable to infections. Most patients die shortly after birth because of these clinical symptoms. Scientific evidence has shown that a mutation in the\n                    <jats:italic>ABCA12<\/jats:italic>\n                    gene is the principal underlying cause of HI. Using whole\u2010exome sequencing, we identified a novel mutation in an Iranian infant with HI. This case presented with characteristic cutaneous manifestations, leading to the discovery of a novel homozygous mutation in the\n                    <jats:italic>ABCA12<\/jats:italic>\n                    gene. This specific mutation [c.4702_4706del, p.(Leu1568IlefsTer5)] has not been reported in any other cases of harlequin ichthyosis and was detected in a heterozygous state in asymptomatic parents. The insights gained from analyzing this family enhance our understanding of the disease's molecular origin, aid in carrier identification, support genetic counseling, and emphasize the importance of prenatal genetic screening for families with a history of HI.\n                  <\/jats:p>","DOI":"10.1002\/ccr3.72010","type":"journal-article","created":{"date-parts":[[2026,2,7]],"date-time":"2026-02-07T05:57:51Z","timestamp":1770443871000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Identification of Novel Mutation in the\n                    <i>ABCA12<\/i>\n                    Gene Causing Harlequin Ichthyosis"],"prefix":"10.1002","volume":"14","author":[{"given":"Nadia","family":"Soltani","sequence":"first","affiliation":[{"name":"Student Research Committee, School of Medicine Arak University of Medical Sciences  Arak Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zahra","family":"Bayati","sequence":"additional","affiliation":[{"name":"Department of Biology, Portion of Genetic Arak University  Arak Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohsen","family":"Soosanabadi","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Semnan University of Medical Sciences  Semnan Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Akbar","family":"Zamani","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Amir\u2010Kabir Hospital Arak University of Medical Sciences  Arak Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Asghar","family":"Lotfi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Amir\u2010Kabir Hospital Arak University of Medical Sciences  Arak Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7201-8301","authenticated-orcid":false,"given":"Milad","family":"Gholami","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Genetics, School of Medicine Arak University of Medical Sciences  Arak 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