{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,16]],"date-time":"2026-07-16T21:40:52Z","timestamp":1784238052640,"version":"3.55.0"},"reference-count":41,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2017,2,24]],"date-time":"2017-02-24T00:00:00Z","timestamp":1487894400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Int J Dermatology"],"published-print":{"date-parts":[[2017,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Clinical and molecular heterogeneity is a prominent characteristic of congenital ichthyoses, with the involvement of numerous causative loci. Mutations in these loci feature in autosomal recessive congenital ichthyoses (<jats:styled-content style=\"fixed-case\">ARCI<\/jats:styled-content>s) quite variably, with certain genes\/mutations being more frequently uncovered in particular populations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>In this study, we used whole exome sequencing as well as direct Sanger sequencing to uncover four novel mutations in <jats:styled-content style=\"fixed-case\">ARCI<\/jats:styled-content>\u2010related genes, which were found in families from the United Arab Emirates. <jats:italic>In silico<\/jats:italic> tools such as CADD and SIFT Indel were used to predict the functional consequences of these mutations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The here\u2010presented mutations occurred in three genes (<jats:italic>ALOX12B<\/jats:italic>,<jats:italic> TGM1<\/jats:italic>,<jats:italic> ABCA12<\/jats:italic>), and these are a mixture of missense and indel variants with damaging functional consequences on their encoded proteins.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>This study presents an overview of the mutations that were found in <jats:styled-content style=\"fixed-case\">ARCI<\/jats:styled-content>\u2010related genes in Arabs and discusses molecular and clinical details pertaining to the above\u2010mentioned Emirati cases and their novel mutations with special emphasis on the resulting protein changes.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ijd.13568","type":"journal-article","created":{"date-parts":[[2017,2,25]],"date-time":"2017-02-25T04:16:48Z","timestamp":1487996208000},"page":"514-523","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Summary of mutations underlying autosomal recessive congenital ichthyoses (ARCI) in Arabs with four novel mutations in ARCI\u2010related genes from the United Arab Emirates"],"prefix":"10.1111","volume":"56","author":[{"given":"Fatma","family":"Bastaki","sequence":"first","affiliation":[{"name":"Pediatric Department Latifa Hospital, Dubai Health Authority Dubai UAE"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Madiha","family":"Mohamed","sequence":"additional","affiliation":[{"name":"Pediatric Department Latifa Hospital, Dubai Health Authority Dubai UAE"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pratibha","family":"Nair","sequence":"additional","affiliation":[{"name":"Centre for Arab Genomic Studies Dubai UAE"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fatima","family":"Saif","sequence":"additional","affiliation":[{"name":"Pediatric Department Latifa Hospital, Dubai Health Authority Dubai UAE"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ethar M.","family":"Mustafa","sequence":"additional","affiliation":[{"name":"Pediatric Department Latifa Hospital, Dubai Health 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