Analysis of mutations in the PIK3CA and FGFR3 genes in verrucous epidermal nevus
Autor(a) principal: | |
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Data de Publicação: | 2013 |
Outros Autores: | , , , , , |
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 |
Resumo: | 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. |
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Anais brasileiros de dermatologia (Online) |
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Analysis of mutations in the PIK3CA and FGFR3 genes in verrucous epidermal nevusHamartomaMutationNevusVerrucous 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.Sociedade Brasileira de Dermatologia2013-12-01info:eu-repo/semantics/reportinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962013000800036Anais Brasileiros de Dermatologia v.88 n.6 suppl.1 2013reponame:Anais brasileiros de dermatologia (Online)instname:Sociedade Brasileira de Dermatologia (SBD)instacron:SBD10.1590/abd1806-4841.20132055info:eu-repo/semantics/openAccessMiranda,Ludmilla QueirósFracaroli,Tainá ScalfoniFonseca,João Carlos MacedoFontenelle,ElisaCurvo,Raphael Pedro MachadoPorto,Luís CristóvãoSouto,Robertoeng2014-06-16T00:00:00Zoai:scielo:S0365-05962013000800036Revistahttp://www.anaisdedermatologia.org.br/https://old.scielo.br/oai/scielo-oai.phpabd@sbd.org.br||revista@sbd.org.br1806-48410365-0596opendoar:2014-06-16T00:00Anais brasileiros de dermatologia (Online) - Sociedade Brasileira de Dermatologia (SBD)false |
dc.title.none.fl_str_mv |
Analysis of mutations in the PIK3CA and FGFR3 genes in verrucous epidermal nevus |
title |
Analysis of mutations in the PIK3CA and FGFR3 genes in verrucous epidermal nevus |
spellingShingle |
Analysis of mutations in the PIK3CA and FGFR3 genes in verrucous epidermal nevus Miranda,Ludmilla Queirós Hamartoma Mutation Nevus |
title_short |
Analysis of mutations in the PIK3CA and FGFR3 genes in verrucous epidermal nevus |
title_full |
Analysis of mutations in the PIK3CA and FGFR3 genes in verrucous epidermal nevus |
title_fullStr |
Analysis of mutations in the PIK3CA and FGFR3 genes in verrucous epidermal nevus |
title_full_unstemmed |
Analysis of mutations in the PIK3CA and FGFR3 genes in verrucous epidermal nevus |
title_sort |
Analysis of mutations in the PIK3CA and FGFR3 genes in verrucous epidermal nevus |
author |
Miranda,Ludmilla Queirós |
author_facet |
Miranda,Ludmilla Queirós Fracaroli,Tainá Scalfoni Fonseca,João Carlos Macedo Fontenelle,Elisa Curvo,Raphael Pedro Machado Porto,Luís Cristóvão Souto,Roberto |
author_role |
author |
author2 |
Fracaroli,Tainá Scalfoni Fonseca,João Carlos Macedo Fontenelle,Elisa Curvo,Raphael Pedro Machado Porto,Luís Cristóvão Souto,Roberto |
author2_role |
author author author author author author |
dc.contributor.author.fl_str_mv |
Miranda,Ludmilla Queirós Fracaroli,Tainá Scalfoni Fonseca,João Carlos Macedo Fontenelle,Elisa Curvo,Raphael Pedro Machado Porto,Luís Cristóvão Souto,Roberto |
dc.subject.por.fl_str_mv |
Hamartoma Mutation Nevus |
topic |
Hamartoma Mutation Nevus |
description |
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. |
publishDate |
2013 |
dc.date.none.fl_str_mv |
2013-12-01 |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/report |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
format |
report |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962013000800036 |
url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962013000800036 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
10.1590/abd1806-4841.20132055 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
text/html |
dc.publisher.none.fl_str_mv |
Sociedade Brasileira de Dermatologia |
publisher.none.fl_str_mv |
Sociedade Brasileira de Dermatologia |
dc.source.none.fl_str_mv |
Anais Brasileiros de Dermatologia v.88 n.6 suppl.1 2013 reponame:Anais brasileiros de dermatologia (Online) instname:Sociedade Brasileira de Dermatologia (SBD) instacron:SBD |
instname_str |
Sociedade Brasileira de Dermatologia (SBD) |
instacron_str |
SBD |
institution |
SBD |
reponame_str |
Anais brasileiros de dermatologia (Online) |
collection |
Anais brasileiros de dermatologia (Online) |
repository.name.fl_str_mv |
Anais brasileiros de dermatologia (Online) - Sociedade Brasileira de Dermatologia (SBD) |
repository.mail.fl_str_mv |
abd@sbd.org.br||revista@sbd.org.br |
_version_ |
1752126419119374336 |