A novel insertion in the FGFR2 gene in a patient with Crouzon phenotype and sacrococcygeal tail.
BACKGROUND
Mutations in the FGFR2 gene are present in several syndromes with craniosynostosis, such as Pfeiffer's, Apert's, and Crouzon's.


METHODS
We report a case of craniosynostosis (Crouzon phenotype) with tracheal anomalies and a sacrococcygeal tail. In addition, the patient shows dolichoplagiocephaly, prominent occiput, proptosis, mild facial asymmetry, strabismus, small umbilical hernia, and syndactyly of the second and third toes.


CONCLUSIONS
Molecular analysis of the FGFR2 gene in this patient revealed a 12-bp insertion (GAGGAGACCTAG) at nucleotide 824. This is an in-frame mutation that adds four amino acid residues to the immunoglobulin IIIa (IgIIIa) domain of the putative protein. This is the first report of an in-frame insertion in exon 8 of FGFR2 in a child with Crouzon's syndrome, tracheal anomalies, and a tail.
Lapunzina
Pablo
P
Section of Medical Genetics, Hospital Universitario La Paz, 28046 Madrid, Spain. plapunzina.hulp@salud.madrid.org
Fernández
Alejandra
A
Sánchez Romero
Juan M
JM
Delicado
Alicia
A
Sáenz de Pipaon
Miguel
M
López Pajares
Isidora
I
Molano
Jesús
J
D001483:Base Sequence; D003050:Coccyx / Q000002:abnormalities*; D003394:Craniofacial Dysostosis / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008969:Molecular Sequence Data; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics* / Q000378:metabolism; D051497:Receptor, Fibroblast Growth Factor, Type 2; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics* / Q000378:metabolism; D012445:Sacrococcygeal Region / Q000002:abnormalities; D014132:Trachea / Q000002:abnormalities
D017468:Receptors, Fibroblast Growth Factor; C496353:FGFR2 protein, human; D020794:Receptor Protein-Tyrosine Kinases; D051497:Receptor, Fibroblast Growth Factor, Type 2