{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T10:49:53Z","timestamp":1790419793432,"version":"4.1.0"},"reference-count":30,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2010,7,15]],"date-time":"2010-07-15T00:00:00Z","timestamp":1279152000000},"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":[[2010,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Crouzon syndrome is a dominantly inherited disorder characterized by craniosynostosis and facial dysostosis, caused by mutations in the fibroblast growth factor receptor 2 (<jats:italic>FGFR2<\/jats:italic>) gene; it belongs to a class of disorders that mostly arise as de novo mutations and exhibit a near\u2010exclusive paternal origin of mutation and elevated paternal age (\u201cpaternal age effect\u201d). However, even if this is the major mode of origin of mutations in paternal age\u2010effect disorders, germline mosaicism may also occur. Here we describe the first molecularly documented evidence of germline and somatic mosaicism for <jats:italic>FGFR2<\/jats:italic> mutation, identified in the mother of a child with Crouzon syndrome caused by a heterozygous c.1007A&gt;G (p.Asp336Gly) substitution. Levels of maternal somatic mosaicism for this mutation, estimated by pyrosequencing, ranged from 3.3% in hair roots to 14.1% in blood. Our observation underlines the importance of parental molecular testing for accurate genetic counseling of the risk of recurrence for Crouzon, and other paternal age\u2010effect syndromes. \u00a9 2010 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.33513","type":"journal-article","created":{"date-parts":[[2010,7,15]],"date-time":"2010-07-15T16:18:13Z","timestamp":1279210693000},"page":"2067-2073","source":"Crossref","is-referenced-by-count":41,"title":["Germline and somatic mosaicism for <i>FGFR2<\/i> mutation in the mother of a child with Crouzon syndrome: Implications for genetic testing in \u201cpaternal age\u2010effect\u201d syndromes"],"prefix":"10.1002","volume":"152A","author":[{"given":"Anne","family":"Goriely","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helen","family":"Lord","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jasmine","family":"Lim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Johnson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tracy","family":"Lester","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helen V.","family":"Firth","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew 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