{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T12:01:51Z","timestamp":1740139311128,"version":"3.37.3"},"reference-count":14,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2018,7,18]],"date-time":"2018-07-18T00:00:00Z","timestamp":1531872000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R01AR068392"],"award-info":[{"award-number":["R01AR068392"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Congenital Anomalies"],"published-print":{"date-parts":[[2019,5]]},"abstract":"<jats:p>Non\u2010bullous congenital ichthyosiform erythroderma (NCIE) is characterized by skin scaling with erythema. In this study, two Pakistani families with NCIE are genetically characterized through Whole Exome and Sanger sequencing to identify molecular basis of the disease. We identified a nonsense homozygous c.2026C&gt;T mutation of <jats:italic>ALOXE3<\/jats:italic>, causing premature termination of the eLOX3 protein (p.Q676X). In silico studies predicted impaired enzymatic activity of the premature truncated eLOX3, leading to abnormal synthesis of specific hepoxilin derivatives, essential for epidermal barrier formation. It is the first ever study reporting homozygotes of p.Q676X mutation in ethnically distinct two Pakistani families; otherwise, heterozygotes of the said mutation have been reported in South Asian population only. Hence, mutation seems to be region\u2010specific and may be useful for molecular diagnosis of NCIE. Moreover, our findings should help in genetic counseling and career screening.<\/jats:p>","DOI":"10.1111\/cga.12303","type":"journal-article","created":{"date-parts":[[2018,6,23]],"date-time":"2018-06-23T08:53:46Z","timestamp":1529744026000},"page":"93-98","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Identification and association of recurrent <i>ALOXE3<\/i> mutation with non\u2010bullous congenital ichthyosiform erythroderma in two ethnically distinct Pakistani families"],"prefix":"10.1111","volume":"59","author":[{"given":"Simeen Ber","family":"Rahman","sequence":"first","affiliation":[{"name":"Dr.Simeen's Aesthetic Skin &amp; Laser Clinic  Rawalpindi Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Asif","family":"Mir","sequence":"additional","affiliation":[{"name":"Department of Biotechnology International Islamic University  Islamabad 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