Second case of Beare-Stevenson syndrome with an FGFR2 Ser372Cys mutation.
Beare-Stevenson syndrome is characterized by cutis gyrata, acanthosis nigricans, skin furrows, skin tags, craniosynostosis, Crouzonoid-like features in some cases and cloverleaf skull in others, anogenital anomalies, and prominent umbilical stump. Reported causes are an FGFR2 Tyr375Cys mutation in nine cases and an FGFR2 Ser372Cys mutation in one case. Here, we report on a second patient with the FGFR2 Ser372Cys mutation.
Fonseca
Renata
R
ECLAMC (Estudo Colaborativo Latino Americano de Malformações Congênitas) at Departamento de Genética, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil.
Costa-Lima
Marcelo A
MA
Cosentino
Viviana
V
Orioli
Iêda M
IM
D000015:Abnormalities, Multiple / Q000235:genetics*; D019943:Amino Acid Substitution; D001483:Base Sequence; D003398:Craniosynostoses / Q000235:genetics; D003545:Cysteine / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D008969:Molecular Sequence Data; D017354:Point Mutation; D051497:Receptor, Fibroblast Growth Factor, Type 2 / Q000235:genetics*; D012694:Serine / Q000235:genetics; D012868:Skin Abnormalities / Q000235:genetics; D012886:Skull / Q000002:abnormalities; D013577:Syndrome
D012694:Serine; C496353:FGFR2 protein, human; D051497:Receptor, Fibroblast Growth Factor, Type 2; D003545:Cysteine