title: A novel mutation in FGFR2.
abstract: Craniosynostosis is a congenital anomaly that can occur as an isolated condition or as part of a syndrome. Although several genes are known to cause syndromic craniosynostosis, only 24% can be attributed to known genes. Therefore, it is likely that more mutations and other genes are involved. We present the identification of a novel point mutation in fibroblast growth factor receptor 2 (FGFR2), c.812G>T, p.(Gly271Val) or c.1851G>C, p.(Leu617Phe). Furthermore, we describe a mutation that has been identified just recently, c.812G>T, (p.Gly271Val) or c.1851G>C, (p.Leu617Phe). In addition, we describe findings from a sequence analysis of all coding exons and exon/intron boundaries of FGFR2 performed on 124 patients with syndromic craniosynostosis.
authors.affiliation: Department of Plastic and Reconstructive Surgery and Hand Surgery, Erasmus MC, University Medical Center, Rotterdam, the Netherlands; Department of Bioinformatics, Erasmus MC, University Medical Center, Rotterdam, the Netherlands.
authors.forename: Jacqueline A C
authors.initials: JA
authors.lastname: Goos
authors.forename: Ans M W
authors.initials: AM
authors.lastname: van den Ouweland
authors.forename: Sigrid M A
authors.initials: SM
authors.lastname: Swagemakers
authors.forename: Annemieke J M H
authors.initials: AJ
authors.lastname: Verkerk
authors.forename: A Jeannette M
authors.initials: AJ
authors.lastname: Hoogeboom
authors.forename: Marie-Lise C
authors.initials: ML
authors.lastname: van Veelen
authors.forename: Irene M J
authors.initials: IM
authors.lastname: Mathijssen
authors.forename: Peter J
authors.initials: PJ
authors.lastname: van der Spek
mesh_terms: D000328:Adult; D002648:Child; D002675:Child, Preschool; D005091:Exons / Q000235:genetics; D019066:Facies; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007438:Introns / Q000235:genetics; D008297:Male; D009154:Mutation / Q000235:genetics*; D051497:Receptor, Fibroblast Growth Factor, Type 2 / Q000235:genetics*; D017422:Sequence Analysis, DNA
chemical_list: D051497:Receptor, Fibroblast Growth Factor, Type 2
keywords: FGFR2; case reports; craniosynostosis; sequence analysis