{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,4,2]],"date-time":"2025-04-02T01:10:59Z","timestamp":1743556259141,"version":"3.40.3"},"reference-count":23,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2016,4,7]],"date-time":"2016-04-07T00:00:00Z","timestamp":1459987200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100002382","name":"King Faisal Specialist Hospital and Research Centre","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002382","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Int J Dermatology"],"published-print":{"date-parts":[[2016,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Autosomal recessive congenital ichthyosis (<jats:styled-content style=\"fixed-case\">ARCI<\/jats:styled-content>) is a rare disorder of keratinization. Infants (10\u201315%) born with this condition are encapsulated in hyperkeratotic membrane covering the entire body and are called \u201ccollodion babies.\u201d So far, mutations in nine different genes have been identified as causative and implicated in the pathogenesis of the clinically and genetically heterogeneous group of <jats:styled-content style=\"fixed-case\">ARCI<\/jats:styled-content> disorders. Among these, <jats:italic><jats:styled-content style=\"fixed-case\">TGM<\/jats:styled-content>1<\/jats:italic> is the gene most commonly mutated in <jats:styled-content style=\"fixed-case\">ARCI<\/jats:styled-content>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We identified 11 patients from five consanguineous but unrelated families affected by <jats:styled-content style=\"fixed-case\">ARCI<\/jats:styled-content>. These patients manifested thick adherent polygonal large scales all over the body. All six patients with <jats:italic><jats:styled-content style=\"fixed-case\">TGM<\/jats:styled-content>1<\/jats:italic> mutations were born with collodion membrane and had ectropion and eclabium, while none of the patients with <jats:styled-content style=\"fixed-case\">ABCA<\/jats:styled-content>12 mutations had these features. Molecular investigations were performed using the combined approach of homozygosity mapping and Sanger sequencing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Here we report two novel mutations c.397_398ins<jats:styled-content style=\"fixed-case\">AGTATGAGTA<\/jats:styled-content> (p.Tyr136Ter<jats:bold>)<\/jats:bold>; c.977\u2010978del<jats:styled-content style=\"fixed-case\">CT<\/jats:styled-content> (p.Ser326Cysfs*8) in <jats:italic><jats:styled-content style=\"fixed-case\">TGM<\/jats:styled-content>1<\/jats:italic> in three different, unrelated Saudi families and one novel mutation c.6900C&gt;A (p.Phe2300Leu) and one reported mutation c.3470C&gt;T (p.Ser1157Leu) in the <jats:italic><jats:styled-content style=\"fixed-case\">ABCA<\/jats:styled-content>12<\/jats:italic> gene in two unrelated Saudi families with <jats:styled-content style=\"fixed-case\">ARCI<\/jats:styled-content>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>The identification of these homozygous variants using combined approaches of homozygosity mapping with direct sequencing are the disease causing mutations in these families. Furthermore, these findings are essential for the genetic diagnostic and prognostic workup with <jats:styled-content style=\"fixed-case\">ARCI<\/jats:styled-content> in Saudi patients.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ijd.13279","type":"journal-article","created":{"date-parts":[[2016,4,10]],"date-time":"2016-04-10T17:45:53Z","timestamp":1460310353000},"page":"673-679","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Novel mutations in <i><scp>TGM<\/scp>1<\/i> and <i><scp>ABCA<\/scp>12<\/i> cause autosomal recessive congenital ichthyosis in five Saudi families"],"prefix":"10.1111","volume":"55","author":[{"given":"Salma M.","family":"Wakil","sequence":"first","affiliation":[{"name":"Department of Genetics King Faisal Specialist Hospital and Research Centre Riyadh Saudi 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