{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,21]],"date-time":"2026-10-21T09:12:11Z","timestamp":1792573931421,"version":"4.5.0"},"reference-count":20,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2003,3,21]],"date-time":"2003-03-21T00:00:00Z","timestamp":1048204800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2003,5,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The association of the Noonan phenotype with neurofibromatosis type 1 (NF1) was first noted by Allanson et al. [<jats:italic>Am J Med Genet 1985;21:457\u2013462.<\/jats:italic>] and 30 further cases have subsequently been reported. It has been suggested that this phenotype is more common than previously appreciated, as Colley et al. [<jats:italic>Clin Genet 1996;49:59\u201364.<\/jats:italic>] examined 94 sequentially identified patients with NF1 from their genetic register and found Noonan features in 12. A 3\u2010bp deletion of exon 17 of the<jats:italic>NF1<\/jats:italic>neurofibromin gene was described in one family by Carey et al. [<jats:italic>Proc Greenwood Genet Center 1997;17:52\u201353<\/jats:italic>]. However, it remains unclear whether Neurofibromatosis\u2013Noonan syndrome (NFNS) represents a form of NF1 (with mutations in the<jats:italic>NF1<\/jats:italic>neurofibromin gene) or a separate syndrome. We have used a new, rapid sequence analysis technique\u2014comparative sequence analysis (CSA)\u2014to examine the<jats:italic>NF1<\/jats:italic>gene in six patients with NFNS. None of the six patients had the previously identified mutation, nor did we observe other mutations within this exon. However, two other mutations were found: in exon 25, a 3\u2010bp deletion 4312 del GAA, and in exon 23\u20102, a 2\u2010bp insertion 4095 ins TG. The<jats:italic>PTPN11<\/jats:italic>gene, now known to cause over 50% of Noonan syndrome was also examined in four cases of NFNS, and no mutations were found. These results show that NFNS can in some cases result from different mutations in the<jats:italic>NF1<\/jats:italic>gene and therefore represents a variant form of NF1. \u00a9 2003 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.20023","type":"journal-article","created":{"date-parts":[[2003,4,17]],"date-time":"2003-04-17T10:01:57Z","timestamp":1050573717000},"page":"1-8","source":"Crossref","is-referenced-by-count":58,"title":["Different mutations in the<i>NF1<\/i>gene are associated with Neurofibromatosis\u2013Noonan syndrome (NFNS)"],"prefix":"10.1002","volume":"119A","author":[{"given":"Diana","family":"Baralle","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chris","family":"Mattocks","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kamini","family":"Kalidas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frances","family":"Elmslie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joanne","family":"Whittaker","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melissa","family":"Lees","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicola","family":"Ragge","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael 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