{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T18:37:31Z","timestamp":1792694251081,"version":"4.5.0"},"reference-count":22,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2022,5,9]],"date-time":"2022-05-09T00:00:00Z","timestamp":1652054400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Laboratory Analysis"],"published-print":{"date-parts":[[2022,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Uridine diphosphate\u2010glucuronosyl transferase 1A1 (<jats:italic>UGT1A1<\/jats:italic>), which is the major UGT1\u00a0gene product, is located on chromosome 2q37. The expression of <jats:italic>UGT1A1<\/jats:italic> is relatively managed by a polymorphic dinucleotide repeat inside the promoter TATA box consisting of 5\u20138 copies of a TA repeat. A (TA) 6TAA is considered as the wild type. The A (TA) 7TAA allele has been identified as the most frequent allele in the Caucasian populations while A (TA) 8TAA allele remains the rarest allele worldwide in North Africa, including the Arab populations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>The spectrum of <jats:italic>UGT1A1<\/jats:italic>\u00a0genetic mutations in seventeen Tunisian children affected by persistent unconjugated hyperbilirubinemias is represented in addition to their relatives, notably parents, sisters, and brothers. Tunisian children, from 16 unrelated families as well as a 17<jats:sup>th<\/jats:sup> family without CN1 affected child, were originated from the West Center of Tunisia. The promoter region and coding exons of the <jats:italic>UGT1A1<\/jats:italic> were PCR amplified, subsequently subjected to Sanger sequencing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The frequencies of genotypes in CN1 patients were as follows (TA) (7\/7) (12\/17: 70.6%) and (TA) (8\/8) (5\/17: 29.4%). All patients harbored the c.1070A&gt;G mutation of exon 3 (<jats:italic>UGT1A1<\/jats:italic>*16) in the homozygous state. Among relatives of our patients (<jats:italic>n<\/jats:italic>\u00a0=\u00a016), who were all heterozygotes for <jats:italic>UGT1A1<\/jats:italic>*16, 13\/16 (81.25%) had a heterozygous state for <jats:italic>UGT1A1<\/jats:italic>\u22171\/<jats:italic>UGT1A1<\/jats:italic>\u221728 or (TA) (6\/7) and, 18.75% (3\/16) were heterozygous for <jats:italic>UGT1A1<\/jats:italic>\u221728\/<jats:italic>UGT1A1<\/jats:italic>\u221737 or (TA) (7\/8) of the promoter polymorphisms.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p><jats:italic>UGT1A1<\/jats:italic>*16 accompanied with <jats:italic>UGT1A1<\/jats:italic>*28 or <jats:italic>UGT1A1<\/jats:italic>*37 had a specific geographic and ethnic distribution for CN pathogenesis in this Tunisian cohort.<\/jats:p><\/jats:sec>","DOI":"10.1002\/jcla.24482","type":"journal-article","created":{"date-parts":[[2022,5,9]],"date-time":"2022-05-09T07:19:50Z","timestamp":1652080790000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Novel combined UGT1A1 mutations in Crigler Najjar Syndrome type I"],"prefix":"10.1002","volume":"36","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6205-5811","authenticated-orcid":false,"given":"Nawel","family":"Abdellaoui","sequence":"first","affiliation":[{"name":"Genomics of Signalopathies at the service of Medicine Medical University of Sfax  Sfax Tunisia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Balkiss","family":"Abdelmoula","sequence":"additional","affiliation":[{"name":"Genomics of Signalopathies at the service of Medicine Medical University of Sfax  Sfax 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University of Sfax  Sfax Tunisia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0102-4405","authenticated-orcid":false,"given":"Nouha","family":"Bouayed Abdelmoula","sequence":"additional","affiliation":[{"name":"Genomics of Signalopathies at the service of Medicine Medical University of Sfax  Sfax Tunisia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,5,9]]},"reference":[{"key":"e_1_2_9_2_1","first-page":"169","article-title":"Congenital familial non hemolytic jaundice with kernicterus","volume":"10","author":"Crigler JF","year":"1952","journal-title":"Pediatrics"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1053\/j.gastro.2014.03.047"},{"key":"e_1_2_9_4_1","volume-title":"Implementation (PharmGKB) [web\u2010page on the Internet]","author":"Pharmacogenomics 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