Ser351Cys mutation in the fibroblast growth factor receptor 2 gene results in severe Pfeiffer syndrome

A novel heterozygous mutation in FGFR2 gene causing Pfeiffer syndrome

“…Mutations in the fibroblast growth factor receptors 1 and 2 ( FGFR1 and FGFR2 ) are related to PS phenotypes (Robin, Falk, & Haldeman‐Englert, ). FGFR1 mutations induce classic hand and foot phenotypes with variable presence of craniosynostosis and milder craniofacial features (Bessenyei, Tihanyi, Hartwig, Szakszon, & Olah, ; Hackett & Rowe, ; Muenke et al, ; Rossi, Jones, Norbury, Bloch‐Zupan, & Winter, ), whereas, mutations in FGFR2 are associated with severe clinical manifestations as craniosynostosis, hypertelorism associated with an extreme proptosis, variable anomalies of hands and feet, vertebral anomalies, and early infant death (Chen et al, ; Chen et al, ; Flottmann et al, ; Gonzales et al, ; Lajeunie et al, ; Stevens & Roeder, ). Up to 94% of the PS mutations occur in either exon 8 or 10 of FGFR2 , corresponding to the Ig‐like domains 3 of the protein (Kan et al, ; Lajeunie et al, ).…”

Exclusion of Class III Malocclusion Candidate Loci in Brazilian Families

“…The 3 additional markers (D4S3038, D7S503, and D10S1483) were selected based on their proximity to genes related to craniofacial growth, development, and malformation-FGFR3 (4p16.3), TWIST (7p21.2), and FGFR2 (10q26), respectivelyand on their high values of heterozygosity (> 0.8). Mutations in FGFR3 are related to the development of craniosynostosis and multiple types of skeletal dysplasia (Jacob et al, 2006;Rump et al, 2006), while TWIST and FGFR2 are related to Saethre-Chotzen and Pfeiffer syndromes, which also present craniosynostosis and midfacial hypoplasia as clinical features (Freitas et al, 2006;Stevens and Roeder, 2006). In addition, there can be an interaction between the TWIST and FGFR protein families during craniofacial development and malformation (Kress et al, 2006).…”

“…Six microsatellite markers were selected, as previously described, for analysis: D1S234 (1p36.11), D4S3038 (4p16.3), D6S1689 (6p21), D7S503 (7p21.2), D10S1483 (10q26), and D19S566 (19p13.1). As discussed above, they were chosen for their high heterozygosity, and for their previous linkage to Class III malocclusion (Yamaguchi et al, 2005) or proximity to candidate regions to skeletal disorders (Stein et al, 2004;Yoshida et al, 2004;Yamaguchi et al, 2005;Freitas et al, 2006;Jacob et al, 2006;Kress et al, 2006;Rump et al, 2006;Stevens and Roeder, 2006). D1S234 is located relatively close to RUNX3, D6S1689 to RUNX2, D4S3038 to FGFR3, D7S503 to TWIST, and D10S1483 to FGFR2.…”

Pfeiffer syndrome in an adult with previous surgical correction: A case report of CT findings

“…Pfeiffer syndrome is subdivided into three broad phenotypes with overlap. Point mutations in Ser351Cys of FGFR2 meaning cysteine replacement of serine at amino acid codon 351 is associated with a more severe phenotype and decreased survival [10] . Type 1 (classic) is more commonly hereditary with sporadic cases reported while in type 2 and 3 only sporadic cases have been reported except for an exclusive type 2 pedigree.…”