Gingival Biopsy to Detect Mosaicism in Overgrowth Syndromes: Report of Two Cases of Megalencephaly-Capillary Malformation Syndrome with Periodontal Anomalies
Joint Authors
Marty, Mathieu
Bonnaud, Carole
Jones, Natalie
Longy, Michel
Vaysse, Frédéric
Bieth, Eric
Bailleul-Forestier, Isabelle
Source
Issue
Vol. 2020, Issue 2020 (31 Dec. 2020), pp.1-5, 5 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2020-09-14
Country of Publication
Egypt
No. of Pages
5
Main Subjects
Abstract EN
Background.
Megalencephaly-capillary malformation (MCAP) is a rare overgrowth syndrome caused by postzygotic activating mutations in the PIK3CA gene.
Aim.
To illustrate the benefits of gingival biopsy in the genetic diagnosis of overgrowth syndromes.
Design.
Gingival biopsy was performed on a 13-year-old patient and a 16-year-old patient with MCAP and who suffered from periodontal disease.
PIK3CA sequencing was performed on DNA extracted from gingival biopsies, blood, and saliva.
Results.
Pathogenic p.Glu365Lys and p.Glu545Asp PIK3CA mutations were found in the gingival biopsies with an allelic frequency of 22% and 35%, respectively, while they were undetectable in blood or saliva.
The genetic diagnosis of MCAP through detection of PIK3CA somatic mosaicism in a periodontal biopsy is unprecedented.
Conclusions.
Considering the tissue distribution and level of somatic mosaicism for PIK3CA mutation, the composite embryologic origin of periodontium and its high fibroblast cell content make it an ideal target for molecular analysis in overgrowth syndromes, and multidisciplinary approach including paediatric dentists should be encouraged.
In addition, our clinical findings suggest that periodontal disease is part of the MCAP phenotypic spectrum and should be systematically investigated.
American Psychological Association (APA)
Marty, Mathieu& Bonnaud, Carole& Jones, Natalie& Longy, Michel& Vaysse, Frédéric& Bieth, Eric…[et al.]. 2020. Gingival Biopsy to Detect Mosaicism in Overgrowth Syndromes: Report of Two Cases of Megalencephaly-Capillary Malformation Syndrome with Periodontal Anomalies. Case Reports in Dentistry،Vol. 2020, no. 2020, pp.1-5.
https://search.emarefa.net/detail/BIM-1146652
Modern Language Association (MLA)
Marty, Mathieu…[et al.]. Gingival Biopsy to Detect Mosaicism in Overgrowth Syndromes: Report of Two Cases of Megalencephaly-Capillary Malformation Syndrome with Periodontal Anomalies. Case Reports in Dentistry No. 2020 (2020), pp.1-5.
https://search.emarefa.net/detail/BIM-1146652
American Medical Association (AMA)
Marty, Mathieu& Bonnaud, Carole& Jones, Natalie& Longy, Michel& Vaysse, Frédéric& Bieth, Eric…[et al.]. Gingival Biopsy to Detect Mosaicism in Overgrowth Syndromes: Report of Two Cases of Megalencephaly-Capillary Malformation Syndrome with Periodontal Anomalies. Case Reports in Dentistry. 2020. Vol. 2020, no. 2020, pp.1-5.
https://search.emarefa.net/detail/BIM-1146652
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1146652