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We present here a 2\u2010year\u2010old Tunisian girl with renal cyst formation and her mother with adult onset ADPKD. Disease\u2010causing mutation has been searched in <jats:italic>PKD1<\/jats:italic> and <jats:italic>PKD2<\/jats:italic> using Long\u2010Range and PCR followed by sequencing. Molecular sequencing displayed us to identify a novel likely pathogenic mutation (c.696\u2009T\u2009&gt;\u2009G; p.C232W, exon 5) in <jats:italic>PKD1<\/jats:italic>. The identified PKD1 mutation is inherited and unreported variant, which can alter the formation of intramolecular disulfide bonds essential for polycystin\u20101 function. We report here the first mutational study in pediatric patient with ADPKD in Tunisia.<\/jats:p>","DOI":"10.1002\/iub.2309","type":"journal-article","created":{"date-parts":[[2020,5,30]],"date-time":"2020-05-30T16:06:07Z","timestamp":1590854767000},"page":"1799-1806","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Detection of a novel mutation in a Tunisian child with polycystic kidney disease"],"prefix":"10.1002","volume":"72","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8934-0578","authenticated-orcid":false,"given":"Mayssa","family":"Abdelwahed","sequence":"first","affiliation":[{"name":"Laboratory of Human Molecular Genetics, Faculty of Medicine University of Sfax  Sfax Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pascale","family":"Hilbert","sequence":"additional","affiliation":[{"name":"Center of Human Genetics Institute of Pathology and Genetics  Gosselies Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Asma","family":"Ahmed","sequence":"additional","affiliation":[{"name":"Nephrology and Hemodialyse Department Mohamed Ben Sassi Hospital  Gabes Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mouna","family":"Dey","sequence":"additional","affiliation":[{"name":"Nephrology and Hemodialyse Department Mohamed Ben Sassi Hospital  Gabes Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hassen","family":"Kamoun","sequence":"additional","affiliation":[{"name":"Medical Genetics Department HediChaker Hospital  Sfax Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leila","family":"Ammar\u2010Keskes","sequence":"additional","affiliation":[{"name":"Laboratory of Human Molecular Genetics, Faculty of Medicine University of Sfax  Sfax Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ne\u00efla","family":"Belguith","sequence":"additional","affiliation":[{"name":"Laboratory of Human Molecular Genetics, Faculty of Medicine University of Sfax  Sfax Tunisia"},{"name":"Medical Genetics Department HediChaker Hospital  Sfax Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,5,30]]},"reference":[{"issue":"11","key":"e_1_2_8_2_1","first-page":"880","article-title":"When cilia go bad: Cilia defects and ciliopathies. 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