Orofacial overgrowth with peripheral nerve enlargement and perineuriomatous pseudo-onion bulb proliferations is part of the PIK3CA-related overgrowth spectrum

Detalhes bibliográficos
Autor(a) principal: Koutlas, Ioannis G.
Data de Publicação: 2020
Outros Autores: 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.
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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spelling 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

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