title: Analysis of mutations in the PIK3CA and FGFR3 genes in verrucous epidermal nevus.
abstract: Verrucous epidermal nevi are congenital hamartomas composed of keratinocytes and may occur alone or in association with developmental abnormalities. A close relationship between variations in the PIK3CA and FGFR3 genes and the appearance of nevi has been recently reported. Based on that, we performed molecular assays for the identification of E542K, E545G/K and H1047R mutations in the PIK3CA gene and of the R248C mutation in the FGFR3 gene. Interestingly, during the amplification process, we did not observe the PCR product of exon 9 of the PIK3CA gene, a region comprising amino acids 542-545. This strongly suggests the occurrence of a microdeletion of that region and indicates a possible allelic variant, which has not yet being described in the literature.
authors.forename: Ludmilla Queirós
authors.initials: LQ
authors.lastname: Miranda
authors.forename: Tainá Scalfoni
authors.initials: TS
authors.lastname: Fracaroli
authors.affiliation: University of the State of Rio de Janeiro, Pedro Ernesto University Hospital, Rio de JaneiroRJ, Brazil.
authors.forename: João Carlos Macedo
authors.initials: JC
authors.lastname: Fonseca
authors.affiliation: Oswaldo Cruz Foundation, Fernandes Figueira Institute, Rio de JaneiroRJ, Brazil.
authors.forename: Elisa
authors.initials: E
authors.lastname: Fontenelle
authors.affiliation: University of the State of Rio de Janeiro, Laboratory of Histocompatibility and Cryopreservation, Rio de JaneiroRJ, Brazil.
authors.forename: Raphael Pedro Machado
authors.initials: RP
authors.lastname: Curvo
authors.affiliation: University of the State of Rio de Janeiro, Laboratory of Histocompatibility and Cryopreservation, Rio de JaneiroRJ, Brazil.
authors.forename: Luís Cristóvão
authors.initials: LC
authors.lastname: Porto
authors.affiliation: University of the State of Rio de Janeiro, Pedro Ernesto University Hospital, Laboratory of Histocompatibility and Cryopreservation, Dermatology Service, Rio de JaneiroRJ, Brazil.
authors.forename: Roberto
authors.initials: R
authors.lastname: Souto
mesh_terms: D002675:Child, Preschool; D058534:Class I Phosphatidylinositol 3-Kinases; D005260:Female; D006801:Humans; D009154:Mutation / Q000235:genetics*; D054000:Nevus, Sebaceous of Jadassohn / Q000235:genetics* / Q000473:pathology; D019869:Phosphatidylinositol 3-Kinases / Q000235:genetics*; D016133:Polymerase Chain Reaction; D051498:Receptor, Fibroblast Growth Factor, Type 3 / Q000235:genetics*
chemical_list: D019869:Phosphatidylinositol 3-Kinases; D058534:Class I Phosphatidylinositol 3-Kinases; C484760:PIK3CA protein, human; C496365:FGFR3 protein, human; D051498:Receptor, Fibroblast Growth Factor, Type 3