PT - JOURNAL ARTICLE AU - A Golla AU - P Lichmer AU - S von Gernet AU - A Winterpacht AU - J Fairley AU - J Murken AU - S Schuffenhauer TI - Phenotypic expression of the fibroblast growth factor receptor 3 (FGFR3) mutation P250R in a large craniosynostosis family. AID - 10.1136/jmg.34.8.683 DP - 1997 Aug 01 TA - Journal of Medical Genetics PG - 683--684 VI - 34 IP - 8 4099 - http://jmg.bmj.com/content/34/8/683.short 4100 - http://jmg.bmj.com/content/34/8/683.full SO - J Med Genet1997 Aug 01; 34 AB - 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.