Further evidence of association between mutations in FGFR2 and syndromic craniosynostosis with sacrococcygeal eversion.
BACKGROUND
Pfeiffer syndrome (PS; OMIM #101600) is an autosomal dominant disorder characterized by craniosynostosis, midface hypoplasia, broad thumbs, brachydactyly, broad great toes, and variable syndactyly.


METHODS
We report a case of PS (type 3) with tracheal and visceral involvement and sacrococcygeal eversion. The patient shows facial dysmorphism with macrocephaly, dolichocephaly, and trigonocephaly, and an asymmetric skull, bilateral and severe exophthalmia with shallow orbits and ocular hypertelorism, downslanting palpebral fissures, constant strabismus, short anterior cranial base, and midface hypoplasia.


CONCLUSIONS
Molecular analysis of the FGFR2 gene in this patient revealed a point mutation (c.890G>C NM_000141). This mutation leads to the substitution of the residue tryptophan at position 290 to cysteine in the protein (p.Try290Cys). These data reinforce the hypothesis that the p.Trp290Cys mutation is more often associated with a severe and poor prognosis of PS. Furthermore they suggest that the presence of sacrococcygeal defects is not associated with any specific FGFR2 mutation.
Oliveira
Nélio A J
NA
Centro de Estudos do Genoma Humano, Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brazil.
Alonso
Luís G
LG
Fanganiello
Roberto D
RD
Passos-Bueno
Maria Rita
MR
D000168:Acrocephalosyndactylia / Q000145:classification / Q000235:genetics* / Q000473:pathology; D019943:Amino Acid Substitution; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D007223:Infant; D010641:Phenotype; D017354:Point Mutation; D011379:Prognosis; D051497:Receptor, Fibroblast Growth Factor, Type 2 / Q000235:genetics*; D012445:Sacrococcygeal Region / Q000002:abnormalities
C496353:FGFR2 protein, human; D051497:Receptor, Fibroblast Growth Factor, Type 2