{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,6]],"date-time":"2025-11-06T06:01:51Z","timestamp":1762408911194},"reference-count":44,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2012,12,22]],"date-time":"2012-12-22T00:00:00Z","timestamp":1356134400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Int J Immunogenetics"],"published-print":{"date-parts":[[2013,8]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>The Pendred syndrome (<jats:styled-content style=\"fixed-case\">PS<\/jats:styled-content>) gene, <jats:italic><jats:styled-content style=\"fixed-case\">SLC<\/jats:styled-content>26A4<\/jats:italic>, was involved in the genetic susceptibility of autoimmune thyroid disease (<jats:styled-content style=\"fixed-case\">AITD<\/jats:styled-content>) in Tunisian population. Recently, functional assays have shown a differential expression of <jats:italic><jats:styled-content style=\"fixed-case\">SLC<\/jats:styled-content>26A4<\/jats:italic> gene between Graves\u2019 disease (<jats:styled-content style=\"fixed-case\">GD<\/jats:styled-content>) and Hashimoto's thyroiditis (<jats:styled-content style=\"fixed-case\">HT<\/jats:styled-content>). Here, by the mean of <jats:styled-content style=\"fixed-case\">DHPLC<\/jats:styled-content> and <jats:styled-content style=\"fixed-case\">HRM<\/jats:styled-content>, we explored the 21 exons and their flanking intronic sequences of 128 patients affected with <jats:styled-content style=\"fixed-case\">GD<\/jats:styled-content> (n\u00a0=\u00a064) or <jats:styled-content style=\"fixed-case\">HT<\/jats:styled-content> (n\u00a0=\u00a064). The pathogenic effect of identified variations on splice was investigated using the web server <jats:styled-content style=\"fixed-case\">HSF<\/jats:styled-content>. Eighteen allelic variations were identified and ranged on missense, sens and splice variations. Nine identified variations (c.\u201066C&gt;G, c.898A&gt;C, c.1002\u20109A&gt;C, c.1061T&gt;C, c.1544\u00a0+\u00a09G&gt;T, c.1545\u20105T&gt;G, c.1790T&gt;C, c.1826T&gt;G, c.2139T&gt;G) were previously reported in hearing impairment studies. Forty\u2010seven per cent (30\/64) of <jats:styled-content style=\"fixed-case\">GD<\/jats:styled-content> patients and 37,5% (24\/64) of <jats:styled-content style=\"fixed-case\">HT<\/jats:styled-content> patients present at least one variant in the explored sequences. Moreover, the analysis of the variant distribution between <jats:styled-content style=\"fixed-case\">HT<\/jats:styled-content> (9 (5\u2032<jats:styled-content style=\"fixed-case\">UTR<\/jats:styled-content>), 12 exonic and 13 intronic) and <jats:styled-content style=\"fixed-case\">GD<\/jats:styled-content> (18 (5\u2032<jats:styled-content style=\"fixed-case\">UTR<\/jats:styled-content>), 13 exonic and 5 intronic) patients showed a significant difference (\u03c7\u00b2\u00a0=\u00a06.54, 2df, <jats:italic>P<\/jats:italic>\u00a0=\u00a00.03). Interestingly, missense changes (I300L, p.M283I, F354S and p.L597S) affected conserved residues of pendrin. On the other hand, the <jats:styled-content style=\"fixed-case\">HSF<\/jats:styled-content> analyses ascertain that some variants identified in <jats:styled-content style=\"fixed-case\">HT<\/jats:styled-content> disease are predicted to have a pathogenic effect on splice. In conclusion, our analysis of <jats:italic><jats:styled-content style=\"fixed-case\">SLC<\/jats:styled-content>26A4<\/jats:italic> sequence variations suggested a distinct genetics basis between <jats:styled-content style=\"fixed-case\">HT<\/jats:styled-content> and <jats:styled-content style=\"fixed-case\">GD<\/jats:styled-content> patients, which should be confirmed on a large cohort.<\/jats:p>","DOI":"10.1111\/iji.12035","type":"journal-article","created":{"date-parts":[[2012,12,22]],"date-time":"2012-12-22T08:14:09Z","timestamp":1356164049000},"page":"284-291","source":"Crossref","is-referenced-by-count":9,"title":["Screening of <i><scp>SLC<\/scp>26A4<\/i> gene in autoimmune thyroid diseases"],"prefix":"10.1111","volume":"40","author":[{"given":"R.","family":"Kallel","sequence":"first","affiliation":[{"name":"Laboratoire de Microorganismes et Biomol\u00e9cules \u00e9quipe des Proc\u00e9d\u00e9s de Criblage Mol\u00e9culaires et Cellulaires Center de Biotechnologie de Sfax Sfax Tunisie"},{"name":"Unit\u00e9 Cibles pour le Diagnostic et la Th\u00e9rapie Centre de Biotechnologie de Sfax Sfax Tunisie"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Niasme\u2010Grare","sequence":"additional","affiliation":[{"name":"AP\u2010HP Department of Biochemistry and Molecular Biology Armand\u2010Trousseau Children Hospital National referral center of genetic deafness Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Belguith\u2010Maalej","sequence":"additional","affiliation":[{"name":"Unit\u00e9 Cibles pour le Diagnostic et la Th\u00e9rapie Centre de Biotechnologie de Sfax Sfax Tunisie"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Mnif","sequence":"additional","affiliation":[{"name":"Service d'Endocrinologie CHU H\u00e9di Chaker Sfax Tunisie"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Abid","sequence":"additional","affiliation":[{"name":"Service d'Endocrinologie CHU H\u00e9di Chaker Sfax Tunisie"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H.","family":"Ayadi","sequence":"additional","affiliation":[{"name":"Unit\u00e9 Cibles pour le Diagnostic et la Th\u00e9rapie Centre de Biotechnologie de Sfax Sfax Tunisie"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Masmoudi","sequence":"additional","affiliation":[{"name":"Laboratoire de Microorganismes et Biomol\u00e9cules \u00e9quipe des Proc\u00e9d\u00e9s de Criblage Mol\u00e9culaires et Cellulaires Center de Biotechnologie de Sfax Sfax Tunisie"},{"name":"Unit\u00e9 Cibles pour le Diagnostic et la Th\u00e9rapie Centre de Biotechnologie de Sfax Sfax Tunisie"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L.","family":"Jonard","sequence":"additional","affiliation":[{"name":"AP\u2010HP Department of Biochemistry and Molecular Biology Armand\u2010Trousseau Children Hospital National referral center of genetic deafness Paris France"},{"name":"INSERM UMRS587 Pasteur Institute Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H.","family":"Hadj Kacem","sequence":"additional","affiliation":[{"name":"Laboratoire de Microorganismes et Biomol\u00e9cules \u00e9quipe des Proc\u00e9d\u00e9s de Criblage Mol\u00e9culaires et Cellulaires Center de Biotechnologie de Sfax Sfax Tunisie"},{"name":"Unit\u00e9 Cibles pour le Diagnostic et la Th\u00e9rapie Centre de Biotechnologie de Sfax Sfax 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