{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T18:10:09Z","timestamp":1745431809073,"version":"3.40.4"},"reference-count":35,"publisher":"S. Karger AG","issue":"5","license":[{"start":{"date-parts":[[2014,1,1]],"date-time":"2014-01-01T00:00:00Z","timestamp":1388534400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2014,1,1]],"date-time":"2014-01-01T00:00:00Z","timestamp":1388534400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Mol Syndromol"],"published-print":{"date-parts":[[2014]]},"abstract":"Noonan syndrome (NS) and related disorders, which are now summarized under the term RASopathies, are caused by germline mutations in genes encoding protein components of the Ras\/mitogen-activated protein kinase pathway. In this study, we evaluated the clinical and molecular spectrum of 21 Tunisian patients, recruited by a cardiology unit, for whom RASopathy diagnosis was suspected by clinical geneticists. Overall, 19 patients had a clinical diagnosis of NS and 2 were classified as having Cardiofaciocutaneous (CFC) syndrome. In 52% (n = 11) of patients, a RASopathy has been molecularly confirmed. Mutations in <i>PTPN11<\/i> and <i>SOS1<\/i> genes were found in patients with diagnosis of NS and <i>BRAF <\/i>gene mutations in patients with CFC syndrome. As reported from other cohorts, mutations in exons 3 and 8 of the <i>PTPN11<\/i> gene predominated in Tunisian NS patients. A very uncommon <i>PTPN11<\/i> mutation c.5C>T (p.T2I), the functional consequences of which have so far remained unclear, was identified in one patient. As biased by the mode of recruitment, all patients included in this study had a congenital heart defect, with pulmonary valve stenosis being the most frequent one. Short stature and developmental abnormalities were present in mutation-positive cases. This is the first molecular study in patients from southern Tunisia with RASopathy diagnosis.<\/jats:p>","DOI":"10.1159\/000362898","type":"journal-article","created":{"date-parts":[[2014,6,2]],"date-time":"2014-06-02T09:59:00Z","timestamp":1401703140000},"page":"212-217","source":"Crossref","is-referenced-by-count":4,"title":["Clinical and Molecular Findings of Tunisian Patients with RASopathies"],"prefix":"10.1159","volume":"5","author":[{"given":"Rim","family":"Louati","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N. 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