title: A case of Pfeiffer syndrome type 1 with an A344P mutation in the FGFR2 gene.
abstract: Pfeiffer syndrome, an autosomal dominant disorder, consists of craniosynostosis, broadening of the thumbs and great toes, and partial soft tissue syndactyly of the hands and feet. Three clinical subtypes have been classified mainly for the purpose of genetic counseling. Mutations in FGFR1 and FGFR2 are known to be associated with the syndrome. However, the correlation between genotype and phenotype is not well defined. Only one patient with Pfeiffer syndrome with no other clinical information has been reported to have had an A344P mutation of the FGFR2. Here we report a Thai male patient with sporadic Pfeiffer syndrome type 1 with impaired intelligence (IQ = 77). Mutation analysis revealed A344P in FGFR2. Identification of the clinical features and molecular defects in more patients is required to better correlate the genotype and phenotype of this complex syndrome.
authors.affiliation: Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand. fmedvst@md2.md.chula.ac.th
authors.forename: V
authors.initials: V
authors.lastname: Shotelersuk
authors.forename: S
authors.initials: S
authors.lastname: Srivuthana
authors.forename: C
authors.initials: C
authors.lastname: Ittiwut
authors.forename: A
authors.initials: A
authors.lastname: Theamboonlers
authors.forename: C
authors.initials: C
authors.lastname: Mahatumarat
authors.forename: Y
authors.initials: Y
authors.lastname: Poovorawan
mesh_terms: D000168:Acrocephalosyndactylia / Q000235:genetics*; D001483:Base Sequence; D002675:Child, Preschool; D017931:DNA Primers; D005817:Genetic Counseling; D006801:Humans; D008297:Male; D009154:Mutation; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics*; D051497:Receptor, Fibroblast Growth Factor, Type 2; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics*
chemical_list: D017931:DNA Primers; D017468:Receptors, Fibroblast Growth Factor; C496353:FGFR2 protein, human; D020794:Receptor Protein-Tyrosine Kinases; D051497:Receptor, Fibroblast Growth Factor, Type 2