Your browser doesn't support javascript.
loading
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.
Affiliation
  • Koutlas IG; Division of Oral and Maxillofacial Pathology, University of Minnesota, Minneapolis, MN, USA.
  • Anbinder AL; São Paulo State University (Unesp), Institute of Science and Technology, São José dos Campos, SP, Brazil.
  • Alshagroud R; King Saud University, Riyadh, Saud Arabia.
  • Rodrigues Cavalcante AS; São Paulo State University (Unesp), Institute of Science and Technology, São José dos Campos, SP, Brazil.
  • Al Kindi M; King Saud University, Riyadh, Saud Arabia.
  • Crenshaw MM; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, Bethesda, MD, USA.
  • Sapp JC; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, Bethesda, MD, USA.
  • Kondolf H; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, Bethesda, MD, USA.
  • Lindhurst MJ; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, Bethesda, MD, USA.
  • Dudley JN; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, Bethesda, MD, USA.
  • Johnston JJ; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, Bethesda, MD, USA.
  • Ryan E; Genetic Diagnostic Laboratory, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.
  • Rafferty K; Genetic Diagnostic Laboratory, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.
  • Ganguly A; Genetic Diagnostic Laboratory, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.
  • Biesecker LG; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, Bethesda, MD, USA.
HGG Adv ; 1(1): 100009, 2020 10 22.
Article in En | MEDLINE | ID: mdl-35047831
ABSTRACT
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.
Key words
Fulltext
Add to My VHL
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Language: En Journal: HGG Adv Year: 2020 Document type: Article Affiliation country: United States
Fulltext
Add to My VHL
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Language: En Journal: HGG Adv Year: 2020 Document type: Article Affiliation country: United States