{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T10:52:01Z","timestamp":1740135121640,"version":"3.37.3"},"reference-count":8,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2020,3,6]],"date-time":"2020-03-06T00:00:00Z","timestamp":1583452800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2020,3,6]],"date-time":"2020-03-06T00:00:00Z","timestamp":1583452800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Gastroenterol"],"published-print":{"date-parts":[[2020,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n<jats:title>Background<\/jats:title>\n<jats:p>Crigler Najjar type 1 is a rare autosomal recessive condition caused by the absence of UDPGT enzyme due to mutations in the UGT1A1 gene. This enzyme is responsible for elimination of unconjugated bilirubin from the body by glucuronidation. Affected individuals are at risk for kernicterus and require lifelong phototherapy. Liver transplant is the only definitive treatment.<\/jats:p>\n<\/jats:sec><jats:sec>\n<jats:title>Case presentation<\/jats:title>\n<jats:p>Here we report a case of a 6\u2009month old Sudanese female infant with CN1 whose molecular analysis revealed a novel homozygous 22 base pair duplication (c.55_76dup) in the coding exon 1 of the UGT1A1 gene. This 22\u2009bp duplication causes a frame shift leading to a premature stop codon. She underwent a successful liver transplant at 7\u2009months of age and is doing well at 1 year follow-up.<\/jats:p>\n<\/jats:sec><jats:sec>\n<jats:title>Conclusion<\/jats:title>\n<jats:p>This study shows that molecular diagnosis helps in precise diagnosis of CN1 and in prognosis, prompt medical intervention and appropriate therapy. This particular 22\u2009bp duplication within the coding region of UGT1A1 can be a founder mutation in the Sudanese population.<\/jats:p>\n<\/jats:sec>","DOI":"10.1186\/s12876-020-01192-4","type":"journal-article","created":{"date-parts":[[2020,3,6]],"date-time":"2020-03-06T22:02:28Z","timestamp":1583532148000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["A case report of a novel 22\u2009bp duplication within exon 1 of the UGT1A1 in a Sudanese infant with Crigler-Najjar syndrome type I"],"prefix":"10.1186","volume":"20","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7303-3204","authenticated-orcid":false,"given":"Sailaja","family":"Valmiki","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kiran Kumar","family":"Mandapati","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leela Krishna Vamsee","family":"Miriyala","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chayarani Chandrashekhar","family":"Kelgeri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohamed","family":"Rela","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Naresh P.","family":"Shanmugam","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Durga Rao","family":"Vegulada","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2020,3,6]]},"reference":[{"issue":"5","key":"1192_CR1","doi-asserted-by":"publisher","first-page":"E59","DOI":"10.1542\/peds.106.5.e59","volume":"106","author":"Y Maruo","year":"2000","unstructured":"Maruo Y, Nishizawa K, Sato H, Sawa H, Shimada M. Prolonged unconjugated hyperbilirubinemia associated with breast milk and mutations of the bilirubin uridine diphosphate- glucuronosyltransferase gene. Pediatrics. 2000;106(5):E59.","journal-title":"Pediatrics"},{"issue":"4","key":"1192_CR2","doi-asserted-by":"publisher","first-page":"297","DOI":"10.1002\/1098-1004(200010)16:4<297::AID-HUMU2>3.0.CO;2-Z","volume":"16","author":"A Kadakol","year":"2000","unstructured":"Kadakol A, Ghosh SS, Sappal BS, Sharma G, Chowdhury JR, Chowdhury NR. Genetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase(UGT1A1) causing Crigler-Najjar and Gilbert syndromes: correlation of genotype tophenotype. Hum Mutat. 2000;16(4):297\u2013306.","journal-title":"Hum Mutat"},{"issue":"3","key":"1192_CR3","doi-asserted-by":"publisher","first-page":"177","DOI":"10.1097\/FPC.0000000000000024","volume":"24","author":"JM Barbarino","year":"2014","unstructured":"Barbarino JM, Haidar CE, Klein TE, Altman RB. PharmGKB summary: very important pharmacogene information for UGT1A1. Pharmacogenet Genomics. 2014;24(3):177\u201383.","journal-title":"Pharmacogenet Genomics"},{"issue":"1","key":"1192_CR4","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1007\/s00439-013-1358-4","volume":"133","author":"PD Stenson","year":"2014","unstructured":"Stenson PD, Mort M, Ball EV, Shaw K, Phillips A, Cooper DN. The human GeneMutation database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine. Hum Genet. 2014;133(1):1\u20139.","journal-title":"Hum Genet"},{"key":"1192_CR5","unstructured":"http:\/\/www.hgmd.cf.ac.uk."},{"issue":"4","key":"1192_CR6","doi-asserted-by":"publisher","first-page":"229","DOI":"10.1097\/FPC.0b013e328012d0da","volume":"17","author":"TY Hsieh","year":"2007","unstructured":"Hsieh TY, Shiu TY, Huang SM, Lin HH, Lee TC, Chen PJ, Chu HC, Chang WK, Jeng KS, Lai MM, Chao YC. Molecular pathogenesis of Gilbert's syndrome: decreased TATA-binding protein binding affinity of UGT1A1 gene promoter. Pharmacogenet Genomics. 2007;17(4):229\u201336.","journal-title":"Pharmacogenet Genomics"},{"issue":"1","key":"1192_CR7","doi-asserted-by":"publisher","first-page":"52","DOI":"10.1002\/humu.21133","volume":"31","author":"N Sneitz","year":"2010","unstructured":"Sneitz N, Bakker CT, de Knegt RJ, Halley DJ, Finel M, Bosma PJ. Crigler-Najjarsyndrome in The Netherlands: identification of four novel UGT1A1 alleles,genotype-phenotype correlation, and functional analysis of 10 missense mutants. Hum Mutat. 2010 Jan;31(1):52\u20139.","journal-title":"Hum Mutat"},{"issue":"1","key":"1192_CR8","doi-asserted-by":"publisher","first-page":"133","DOI":"10.3324\/haematol.10585","volume":"92","author":"M D'Apolito","year":"2007","unstructured":"D'Apolito M, Marrone A, Servedio V, Vajro P, De Falco L, Iolascon A. Seven novel mutations of the UGT1A1 gene in patients with unconjugated hyperbilirubinemia. Haematologica. 2007 Jan;92(1):133\u20134.","journal-title":"Haematologica"}],"container-title":["BMC Gastroenterology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/s12876-020-01192-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1186\/s12876-020-01192-4\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/s12876-020-01192-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,3,6]],"date-time":"2021-03-06T00:28:54Z","timestamp":1614990534000},"score":1,"resource":{"primary":{"URL":"https:\/\/bmcgastroenterol.biomedcentral.com\/articles\/10.1186\/s12876-020-01192-4"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,3,6]]},"references-count":8,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2020,12]]}},"alternative-id":["1192"],"URL":"https:\/\/doi.org\/10.1186\/s12876-020-01192-4","relation":{},"ISSN":["1471-230X"],"issn-type":[{"type":"electronic","value":"1471-230X"}],"subject":[],"published":{"date-parts":[[2020,3,6]]},"assertion":[{"value":"12 July 2019","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"17 February 2020","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"6 March 2020","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"Ethical approval was taken from the Institutional Ethical committee for Biomedical Research, GenesNlife Healthcare Pvt. Ltd. Hyderabad India.Approval No: GNL\/EC15\/003.Written informed consent was taken from the patients parents.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Written informed consent was obtained from the parents of the patient for the publication of patient\/clinical details and\/or identifying imagery.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"SV, KKM, DRV,LKVM are employees of GenesNLife Healthcare Pvt., Ltd. CCK, MR and NS are employees of Gleneageles Global hospitals.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"62"}}