FGFR mutations and plagiocephaly.
FGFR genes have important effects on bone development, and mutations in 4 "hot spot" exons of FGFR1-3 are found in many patients with craniosynostosis and some with synostotic plagiocephaly. To test the hypothesis that sequence variation in those exons predisposes toward developmental bone deformation, we assayed 160 children with nonsynostotic plagiocephaly by temporal temperature gradient gel electrophoresis. No sequence variation was found, indicating that mutations in the "hot spot" exons are not associated with this common developmental condition; however, we did not assay most of the exons or related genes.
Dhamcharee
Valairat
V
Division of Neonatal Medicine, Children's Hospital Los Angeles, 4650 Sunset Boulevard, Los Angeles, CA 90027, USA. vdhamcharee@chla.usc.edu
Boles
Richard G
RG
D000168:Acrocephalosyndactylia / Q000235:genetics; D001120:Arginine / Q000235:genetics; D003394:Craniofacial Dysostosis / Q000235:genetics; D003398:Craniosynostoses / Q000235:genetics*; D004586:Electrophoresis; D005091:Exons / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics; D014644:Genetic Variation / Q000235:genetics; D006801:Humans; D007223:Infant; D009154:Mutation / Q000235:genetics*; D049068:Plagiocephaly, Nonsynostotic / Q000235:genetics*; D011392:Proline / Q000235:genetics; D051496:Receptor, Fibroblast Growth Factor, Type 1; D051497:Receptor, Fibroblast Growth Factor, Type 2; D051498:Receptor, Fibroblast Growth Factor, Type 3; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics*
D017468:Receptors, Fibroblast Growth Factor; D001120:Arginine; D011392:Proline; C496348:FGFR1 protein, human; C496353:FGFR2 protein, human; C496365:FGFR3 protein, human; D051496:Receptor, Fibroblast Growth Factor, Type 1; D051497:Receptor, Fibroblast Growth Factor, Type 2; D051498:Receptor, Fibroblast Growth Factor, Type 3