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We present our findings of a candidate gene resequencing approach to identify rare variants associated with the most common forms of isolated craniosynostosis. Resequencing of the coding regions, splice junction sites, and 5\u2032 and 3\u2032 untranslated regions of 27 candidate genes in 186 cases of isolated non\u2010syndromic single suture synostosis revealed three novel and two rare sequence variants (R406H, R595H, N857S, P190S, M446V) in insulin\u2010like growth factor I receptor (<jats:italic>IGF1R<\/jats:italic>) that are enriched relative to control samples. Mapping the resultant amino acid changes to the modeled homodimer protein structure suggests a structural basis for segregation between these and other disease\u2010associated mutations found in <jats:italic>IGF1R<\/jats:italic>. These data suggest that <jats:italic>IGF1R<\/jats:italic> mutations may contribute to the risk and in some cases cause single suture craniosynostosis. \u00a9 2010 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.33781","type":"journal-article","created":{"date-parts":[[2010,12,28]],"date-time":"2010-12-28T21:31:48Z","timestamp":1293571908000},"page":"91-97","source":"Crossref","is-referenced-by-count":31,"title":["<i>IGF1R<\/i> variants associated with isolated single suture craniosynostosis"],"prefix":"10.1002","volume":"155","author":[{"given":"Michael L.","family":"Cunningham","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeremy A.","family":"Horst","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark J.","family":"Rieder","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne 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