Analysis of mutations in the PIK3CA and FGFR3 genes in verrucous epidermal nevus

• Autor(a) principal: Miranda,Ludmilla Queirós
• Data de Publicação: 2013
• Outros Autores: Fracaroli,Tainá Scalfoni, Fonseca,João Carlos Macedo, Fontenelle,Elisa, Curvo,Raphael Pedro Machado, Porto,Luís Cristóvão, Souto,Roberto
• Tipo de documento: Relatório
• Idioma: eng
• Título da fonte: Anais brasileiros de dermatologia (Online)
• Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962013000800036
• topic: Hamartoma; Mutation; Nevus

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.