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Orofacial overgrowth with peripheral nerve enlargement and perineuriomatous pseudo-onion bulb proliferations is part of the PIK3CA-related overgrowth spectrum
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 e...
| Autores principales: | , , , , , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Elsevier
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8756490/ https://www.ncbi.nlm.nih.gov/pubmed/35047831 http://dx.doi.org/10.1016/j.xhgg.2020.100009 |
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| author | Koutlas, Ioannis G. Anbinder, Ana-Lia Alshagroud, Rana Rodrigues Cavalcante, Ana Sueli 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_facet | Koutlas, Ioannis G. Anbinder, Ana-Lia Alshagroud, Rana Rodrigues Cavalcante, Ana Sueli 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_sort | Koutlas, Ioannis G. |
| collection | PubMed |
| 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. |
| format | Online Article Text |
| id | pubmed-8756490 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2020 |
| publisher | Elsevier |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-87564902022-01-18 Orofacial overgrowth with peripheral nerve enlargement and perineuriomatous pseudo-onion bulb proliferations is part of the PIK3CA-related overgrowth spectrum Koutlas, Ioannis G. Anbinder, Ana-Lia Alshagroud, Rana Rodrigues Cavalcante, Ana Sueli 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. HGG Adv Article 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. Elsevier 2020-08-14 /pmc/articles/PMC8756490/ /pubmed/35047831 http://dx.doi.org/10.1016/j.xhgg.2020.100009 Text en © 2020 The Author(s) https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/). |
| spellingShingle | Article Koutlas, Ioannis G. Anbinder, Ana-Lia Alshagroud, Rana Rodrigues Cavalcante, Ana Sueli 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. 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 |
| 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_short | 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 |
| topic | Article |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8756490/ https://www.ncbi.nlm.nih.gov/pubmed/35047831 http://dx.doi.org/10.1016/j.xhgg.2020.100009 |
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