{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T19:47:11Z","timestamp":1790192831810,"version":"4.1.0"},"reference-count":30,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2019,2,27]],"date-time":"2019-02-27T00:00:00Z","timestamp":1551225600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"University Tunis El Manar"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Nephrology"],"published-print":{"date-parts":[[2019,3]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Aim<\/jats:title><jats:p>The aim of the present study was to characterize the molecular basis of complement factor I deficiency in Tunisian atypical haemolytic and uremic syndrome patients with low factor I levels.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Six adults and seven children were enrolled in this study. Complement factor I levels were assessed by a homemade sandwich ELISA and ranged between 12.5% and 60%. Genomic DNA was amplified by way of a polymerase chain reaction using intronic primers flanking the 13 coding exons. Sequencing of amplified products was carried out by the dye terminator sequencing method. Molecular study was performed on parental samples for three dead paediatric patients. The control group consisted of 100 healthy Tunisian donors.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We identified a total of 13 substitutions and one insertion: seven in introns, four in exons and three in UTR. The new mutations were c.\u2010132G\u2009&gt;\u2009C, c.71\u2009+\u2009181\u2009T\u2009&gt;\u2009A in 5\u2032UTR and intron 1, respectively. Three intronic polymorphisms were predicted to have impact on splicing events: c.482\u2009+\u20096C\u2009&gt;\u2009T, <jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"https:\/\/www.ncbi.nlm.nih.gov\/projects\/sviewer\/?id=NM_000204.3&amp;search=NM_000204.3:c.884-42_884-41insTTAAA&amp;v=1:100&amp;content=5\">c.884\u201042_884\u201041insTTAAA<\/jats:ext-link> (rs34422850) and c.1429\u2009+\u200933 A\u2009&gt;\u2009G (rs9998151). They were three missense mutations leading to a p.Ile 357Met, p.Ile416Leu and p.GLu548Gln. p.Ile 357Met was found in two patients and one relative. Half of the patients had associated mutation and\/or polymorphisms.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This is the first genetic study in Tunisian and Maghrebin atypical haemolytic and uraemic syndrome patients. The high occurrence of Ile357Met mutation may reflect a founding effect. Functional impact of the two new mutations c.\u2010132G\u2009&gt;\u2009C and c.71\u2009+\u2009181A\u2009&gt;\u2009T have to be studied. Association of simultaneous genetic abnormalities may explain the variability of atypical haemolytic and uraemic syndrome, penetrance and disease phenotype.<\/jats:p><\/jats:sec>","DOI":"10.1111\/nep.13217","type":"journal-article","created":{"date-parts":[[2018,1,2]],"date-time":"2018-01-02T10:32:47Z","timestamp":1514889167000},"page":"357-364","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Molecular basis of complement factor <scp>I<\/scp> deficiency in <scp>T<\/scp>unisian atypical haemolytic and uraemic syndrome patients"],"prefix":"10.1111","volume":"24","author":[{"given":"Hend","family":"Jlajla","sequence":"first","affiliation":[{"name":"Department of Immunology La Rabta Hospital  Tunis Tunisia"},{"name":"Research Laboratory of Immuno\u2010Rheumatology (LR05 SP01), La Rabta Hospital  Tunis Tunisia"},{"name":"Faculty of Sciences Carthage University  Bizerte 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