Orofacial overgrowth with peripheral nerve enlargement and perineuriomatous pseudo-onion bulb proliferations is part of the PIK3CA-related overgrowth spectrum
Autor(a) principal: | |
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Data de Publicação: | 2020 |
Outros Autores: | , , , , , , , , , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Institucional da UNESP |
Texto Completo: | http://dx.doi.org/10.1016/j.xhgg.2020.100009 http://hdl.handle.net/11449/221952 |
Resumo: | Individuals with orofacial asymmetry due to mucosal overgrowths, ipsilateral bone and dental aberrations with perineurial hyperplasia and/or perineuriomatous pseudo-onion bulb proliferations, comprise a recognizable clinical entity. In this article, we describe three individuals with this clinical entity and mosaic PIK3CA variants c.3140A>G (p. His1047Arg), c.328_330delGAA (p. Glu110del), and c.1353_1364del (p.Glu453_Leu456del). We conclude that the identification of these mosaic variants in individuals with orofacial asymmetry presenting histopathologically perineurial hyperplasia and/or intraneural pseudo-onion bulb perineurial cell proliferations supports the inclusion of this clinical entity in the PIK3CA-related overgrowth spectrum. |
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Orofacial overgrowth with peripheral nerve enlargement and perineuriomatous pseudo-onion bulb proliferations is part of the PIK3CA-related overgrowth spectrumfaceoral mucosaovergrowthperineuriumperipheral nervePIK3CApseudo-onion bulbsIndividuals with orofacial asymmetry due to mucosal overgrowths, ipsilateral bone and dental aberrations with perineurial hyperplasia and/or perineuriomatous pseudo-onion bulb proliferations, comprise a recognizable clinical entity. In this article, we describe three individuals with this clinical entity and mosaic PIK3CA variants c.3140A>G (p. His1047Arg), c.328_330delGAA (p. Glu110del), and c.1353_1364del (p.Glu453_Leu456del). We conclude that the identification of these mosaic variants in individuals with orofacial asymmetry presenting histopathologically perineurial hyperplasia and/or intraneural pseudo-onion bulb perineurial cell proliferations supports the inclusion of this clinical entity in the PIK3CA-related overgrowth spectrum.Division of Oral and Maxillofacial Pathology University of MinnesotaSão Paulo State University (Unesp) Institute of Science and Technology, São José dos CamposKing Saud UniversityMedical Genomics and Metabolic Genetics Branch National Human Genome Research InstituteGenetic Diagnostic Laboratory University of Pennsylvania Perelman School of MedicineSão Paulo State University (Unesp) Institute of Science and Technology, São José dos CamposUniversity of MinnesotaUniversidade Estadual Paulista (UNESP)King Saud UniversityNational Human Genome Research InstituteUniversity of Pennsylvania Perelman School of MedicineKoutlas, Ioannis G.Anbinder, Ana-Lia [UNESP]Alshagroud, RanaRodrigues Cavalcante, Ana Sueli [UNESP]Al Kindi, MohammedCrenshaw, Molly M.Sapp, Julie C.Kondolf, HannahLindhurst, Marjorie J.Dudley, Jeffrey N.Johnston, Jennifer J.Ryan, ElyseRafferty, KeithGanguly, ArupaBiesecker, Leslie G.2022-04-28T19:41:32Z2022-04-28T19:41:32Z2020-10-22info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articlehttp://dx.doi.org/10.1016/j.xhgg.2020.100009Human Genetics and Genomics Advances, v. 1, n. 1, 2020.2666-2477http://hdl.handle.net/11449/22195210.1016/j.xhgg.2020.1000092-s2.0-85110077911Scopusreponame:Repositório Institucional da UNESPinstname:Universidade Estadual Paulista (UNESP)instacron:UNESPengHuman Genetics and Genomics Advancesinfo:eu-repo/semantics/openAccess2022-04-28T19:41:32Zoai:repositorio.unesp.br:11449/221952Repositório InstitucionalPUBhttp://repositorio.unesp.br/oai/requestopendoar:29462024-08-05T23:32:33.458979Repositório Institucional da UNESP - Universidade Estadual Paulista (UNESP)false |
dc.title.none.fl_str_mv |
Orofacial overgrowth with peripheral nerve enlargement and perineuriomatous pseudo-onion bulb proliferations is part of the PIK3CA-related overgrowth spectrum |
title |
Orofacial overgrowth with peripheral nerve enlargement and perineuriomatous pseudo-onion bulb proliferations is part of the PIK3CA-related overgrowth spectrum |
spellingShingle |
Orofacial overgrowth with peripheral nerve enlargement and perineuriomatous pseudo-onion bulb proliferations is part of the PIK3CA-related overgrowth spectrum Koutlas, Ioannis G. face oral mucosa overgrowth perineurium peripheral nerve PIK3CA pseudo-onion bulbs |
title_short |
Orofacial overgrowth with peripheral nerve enlargement and perineuriomatous pseudo-onion bulb proliferations is part of the PIK3CA-related overgrowth spectrum |
title_full |
Orofacial overgrowth with peripheral nerve enlargement and perineuriomatous pseudo-onion bulb proliferations is part of the PIK3CA-related overgrowth spectrum |
title_fullStr |
Orofacial overgrowth with peripheral nerve enlargement and perineuriomatous pseudo-onion bulb proliferations is part of the PIK3CA-related overgrowth spectrum |
title_full_unstemmed |
Orofacial overgrowth with peripheral nerve enlargement and perineuriomatous pseudo-onion bulb proliferations is part of the PIK3CA-related overgrowth spectrum |
title_sort |
Orofacial overgrowth with peripheral nerve enlargement and perineuriomatous pseudo-onion bulb proliferations is part of the PIK3CA-related overgrowth spectrum |
author |
Koutlas, Ioannis G. |
author_facet |
Koutlas, Ioannis G. Anbinder, Ana-Lia [UNESP] Alshagroud, Rana Rodrigues Cavalcante, Ana Sueli [UNESP] Al Kindi, Mohammed Crenshaw, Molly M. Sapp, Julie C. Kondolf, Hannah Lindhurst, Marjorie J. Dudley, Jeffrey N. Johnston, Jennifer J. Ryan, Elyse Rafferty, Keith Ganguly, Arupa Biesecker, Leslie G. |
author_role |
author |
author2 |
Anbinder, Ana-Lia [UNESP] Alshagroud, Rana Rodrigues Cavalcante, Ana Sueli [UNESP] Al Kindi, Mohammed Crenshaw, Molly M. Sapp, Julie C. Kondolf, Hannah Lindhurst, Marjorie J. Dudley, Jeffrey N. Johnston, Jennifer J. Ryan, Elyse Rafferty, Keith Ganguly, Arupa Biesecker, Leslie G. |
author2_role |
author author author author author author author author author author author author author author |
dc.contributor.none.fl_str_mv |
University of Minnesota Universidade Estadual Paulista (UNESP) King Saud University National Human Genome Research Institute University of Pennsylvania Perelman School of Medicine |
dc.contributor.author.fl_str_mv |
Koutlas, Ioannis G. Anbinder, Ana-Lia [UNESP] Alshagroud, Rana Rodrigues Cavalcante, Ana Sueli [UNESP] Al Kindi, Mohammed Crenshaw, Molly M. Sapp, Julie C. Kondolf, Hannah Lindhurst, Marjorie J. Dudley, Jeffrey N. Johnston, Jennifer J. Ryan, Elyse Rafferty, Keith Ganguly, Arupa Biesecker, Leslie G. |
dc.subject.por.fl_str_mv |
face oral mucosa overgrowth perineurium peripheral nerve PIK3CA pseudo-onion bulbs |
topic |
face oral mucosa overgrowth perineurium peripheral nerve PIK3CA pseudo-onion bulbs |
description |
Individuals with orofacial asymmetry due to mucosal overgrowths, ipsilateral bone and dental aberrations with perineurial hyperplasia and/or perineuriomatous pseudo-onion bulb proliferations, comprise a recognizable clinical entity. In this article, we describe three individuals with this clinical entity and mosaic PIK3CA variants c.3140A>G (p. His1047Arg), c.328_330delGAA (p. Glu110del), and c.1353_1364del (p.Glu453_Leu456del). We conclude that the identification of these mosaic variants in individuals with orofacial asymmetry presenting histopathologically perineurial hyperplasia and/or intraneural pseudo-onion bulb perineurial cell proliferations supports the inclusion of this clinical entity in the PIK3CA-related overgrowth spectrum. |
publishDate |
2020 |
dc.date.none.fl_str_mv |
2020-10-22 2022-04-28T19:41:32Z 2022-04-28T19:41:32Z |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://dx.doi.org/10.1016/j.xhgg.2020.100009 Human Genetics and Genomics Advances, v. 1, n. 1, 2020. 2666-2477 http://hdl.handle.net/11449/221952 10.1016/j.xhgg.2020.100009 2-s2.0-85110077911 |
url |
http://dx.doi.org/10.1016/j.xhgg.2020.100009 http://hdl.handle.net/11449/221952 |
identifier_str_mv |
Human Genetics and Genomics Advances, v. 1, n. 1, 2020. 2666-2477 10.1016/j.xhgg.2020.100009 2-s2.0-85110077911 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
Human Genetics and Genomics Advances |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.source.none.fl_str_mv |
Scopus reponame:Repositório Institucional da UNESP instname:Universidade Estadual Paulista (UNESP) instacron:UNESP |
instname_str |
Universidade Estadual Paulista (UNESP) |
instacron_str |
UNESP |
institution |
UNESP |
reponame_str |
Repositório Institucional da UNESP |
collection |
Repositório Institucional da UNESP |
repository.name.fl_str_mv |
Repositório Institucional da UNESP - Universidade Estadual Paulista (UNESP) |
repository.mail.fl_str_mv |
|
_version_ |
1808129530032816128 |