6533b7d7fe1ef96bd1267a75
RESEARCH PRODUCT
Q289P mutation in the FGFR2 gene: first report in a patient with type 1 Pfeiffer syndrome.
M MartinesCarmelo FabianoVincenzo AntonaMarcello NicetaMaria PiccioneAlberto BianchiGiovanni Corsellosubject
Malemusculoskeletal diseasescongenital hereditary and neonatal diseases and abnormalitiesPathologymedicine.medical_specialtyCraniosynostosisSettore MED/38 - Pediatria Generale E SpecialisticaHumansPoint MutationMedicineMissense mutationReceptor Fibroblast Growth Factor Type 2HypertelorismGeneticsFibrous jointbusiness.industryFibroblast growth factor receptor 2Craniofacial DysostosisInfantDysostosisExonsAcrocephalosyndactyliamedicine.diseaseSkullPhenotypemedicine.anatomical_structurePfeiffer - Crouzon - Apert - Craniosynostosis - Finger and toes abnormalities - Fibroblast growth factor receptorPediatrics Perinatology and Child HealthPfeiffer syndromeFemalemedicine.symptombusinessdescription
When normal development and growth of the calvarial sutures is disrupted, craniosynostosis (premature calvarial suture fusion) may result. Classical craniosynostosis syndromes are autosomal dominant traits and include Apert, Pfeiffer, Crouzon, Jackson-Weiss, and Saethre-Chotzen syndromes. In these conditions, there is premature fusion of skull bones leading to an abnormal head shape, ocular hypertelorism with proptosis, and midface hypoplasia. It is known that mutations in the fibroblast growth factor receptors 1, 2, and 3 cause craniosynostosis. We report on a child with a clinically diagnosed Pfeiffer syndrome that shows the missense point mutation Q289P in exon 8 of the FGFR2 gene. This is a mutation not previously described in the Pfeiffer syndrome but reported in the Crouzon, Jackson-Weiss, and Saethre-Chotzen syndromes. In this paper, we propose the concept that these disorders may represent one genetic condition with phenotypic variability.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 2008-09-10 |