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Analysis of mutations in the PIK3CA and FGFR3 genes in verrucous epidermal 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 performe...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Sociedade Brasileira de Dermatologia
2013
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3876006/ https://www.ncbi.nlm.nih.gov/pubmed/24346875 http://dx.doi.org/10.1590/abd1806-4841.20132055 |
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author | Miranda, Ludmilla Queirós Fracaroli, Tainá Scalfoni Fonseca, João Carlos Macedo Fontenelle, Elisa Curvo, Raphael Pedro Machado Porto, Luís Cristóvão Souto, Roberto |
author_facet | Miranda, Ludmilla Queirós Fracaroli, Tainá Scalfoni Fonseca, João Carlos Macedo Fontenelle, Elisa Curvo, Raphael Pedro Machado Porto, Luís Cristóvão Souto, Roberto |
author_sort | Miranda, Ludmilla Queirós |
collection | PubMed |
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. |
format | Online Article Text |
id | pubmed-3876006 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2013 |
publisher | Sociedade Brasileira de Dermatologia |
record_format | MEDLINE/PubMed |
spelling | pubmed-38760062014-01-08 Analysis of mutations in the PIK3CA and FGFR3 genes in verrucous epidermal nevus Miranda, Ludmilla Queirós Fracaroli, Tainá Scalfoni Fonseca, João Carlos Macedo Fontenelle, Elisa Curvo, Raphael Pedro Machado Porto, Luís Cristóvão Souto, Roberto An Bras Dermatol Case Report 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. Sociedade Brasileira de Dermatologia 2013 /pmc/articles/PMC3876006/ /pubmed/24346875 http://dx.doi.org/10.1590/abd1806-4841.20132055 Text en ©2013 by Anais Brasileiros de Dermatologia http://creativecommons.org/licenses/by-nc/3.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License, which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Case Report Miranda, Ludmilla Queirós Fracaroli, Tainá Scalfoni Fonseca, João Carlos Macedo Fontenelle, Elisa Curvo, Raphael Pedro Machado Porto, Luís Cristóvão Souto, Roberto 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
|
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_short | 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 |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3876006/ https://www.ncbi.nlm.nih.gov/pubmed/24346875 http://dx.doi.org/10.1590/abd1806-4841.20132055 |
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