@article {Golla683, author = {A Golla and P Lichmer and S von Gernet and A Winterpacht and J Fairley and J Murken and S Schuffenhauer}, title = {Phenotypic expression of the fibroblast growth factor receptor 3 (FGFR3) mutation P250R in a large craniosynostosis family.}, volume = {34}, number = {8}, pages = {683--684}, year = {1997}, doi = {10.1136/jmg.34.8.683}, publisher = {BMJ Publishing Group Ltd}, abstract = {The craniosynostosis syndromes are a heterogeneous group of sporadic, autosomal dominant disorders with significant clinical overlap. Recently, we described a large family with autosomal dominant craniosynostosis suggestive of Saethre-Chotzen syndrome, in which linkage to the Saethre-Chotzen syndrome loci on 7p had been excluded. We now report the presence of a mutation in the fibroblast growth factor receptor 3 (FGFR3) in this family. The mutation, P250R, had been previously reported in 10 patients with non-syndromic craniosynostosis. Variable expression of this mutation is evident especially in two additional members of this family, one of whom is severely affected with pancraniosynostosis. The family provides a further example of genetic heterogeneity and variable expression of the craniosynostosis syndromes and broadens the phenotypic spectrum associated with the FGFR3 mutation P250R. In addition, we found a polymorphism (F384L) in the transmembrane domain of FGFR3 which occurs with a frequency of 3\% in the Turkish population but is uncommon among Germans.}, issn = {0022-2593}, URL = {https://jmg.bmj.com/content/34/8/683}, eprint = {https://jmg.bmj.com/content/34/8/683.full.pdf}, journal = {Journal of Medical Genetics} }