Clinical findings in a patient with FGFR1 P252R mutation and comparison with the literature.
We report on a patient with the skeletal findings of Jackson-Weiss syndrome, who manifests only mild craniofacial anomalies. Molecular analysis of her fibroblast growth factor receptor 1 gene (FGFR1) identified a heterozygous P252R missense mutation, previously only reported with FGFR1-Pfeiffer syndrome like manifestations. Mutations in the immunoglobulin-like, II-III (IgII-III) linker region of FGFR1 and FGFR3 molecules may present as a skeletal dysplasia affecting the appendicular skeleton including, brachydactyly, short broad middle phalanges, phalangeal epiphyseal coning and broad halluces. This communication is a further example of the phenomenon of an activated FGFR molecule resulting in overlapping manifestations in FGFR syndromes.
Roscioli
T
T
Queensland Clinical Genetics Service, Herston Hospitals Campus, Brisbane, Queensland, Australia.
Flanagan
S
S
Kumar
P
P
Masel
J
J
Gattas
M
M
Hyland
V J
VJ
Glass
I A
IA
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000235:genetics*; D001483:Base Sequence; D002648:Child; D017931:DNA Primers; D019066:Facies; D005260:Female; D006801:Humans; D020125:Mutation, Missense; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging / Q000235:genetics; D011859:Radiography; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics*; D051496:Receptor, Fibroblast Growth Factor, Type 1; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics*; D013577:Syndrome
D017931:DNA Primers; D017468:Receptors, Fibroblast Growth Factor; C496348:FGFR1 protein, human; D020794:Receptor Protein-Tyrosine Kinases; D051496:Receptor, Fibroblast Growth Factor, Type 1