Detection of a mosaic PIK3CA mutation in dental DNA from a child with megalencephaly capillary malformation syndrome

Clinical Dysmorphology
John H McDermottJill Clayton-Smith

Abstract

The megalencephaly capillary malformation syndrome (MCAP, OMIM 602501) is known to be associated with mosaic mutations in PIK3CA occurring during embryogenesis. Standard sequencing technologies are relatively poor at indentifying sequence changes that only affect a small percentage of cells, and the mutations are frequently not identified in lymphocyte DNA, with biopsies of the affected tissues often being required to detect mosaic mutations. Such invasive procedures are not always acceptable to parents. We describe the case of a patient in whom we were able to confirm a causative PIK3CA mutation, first found thorugh next-generation sequencing, in several tissue types including a secondary tooth. As part of this work, we were also able to begin validating dental tissue for potential use in genetic testing, as we achieved excellent DNA yields with minimal effort, even from deciduous teeth shed some years earlier.

References

Jun 9, 1999·American Journal of Medical Genetics·L G BieseckerM M Cohen
Aug 5, 2000·American Journal of Medical Genetics·M M Cohen
Nov 15, 2007·American Journal of Medical Genetics. Part a·Robert L ConwayJohn M Graham
Nov 4, 2008·Clinical Dysmorphology·Natalie L E Canham, Susan E Holder
Aug 31, 2010·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Sanaa ChoufaniRosanna Weksberg
Nov 6, 2013·Science & Justice : Journal of the Forensic Science Society·Denice Higgins, Jeremy J Austin

❮ Previous
Next ❯

Methods Mentioned

BETA
biopsy
PCR
electrophoresis
exome sequencing
biopsies

Related Concepts

Related Feeds

Beckwith-Wiedemann syndrome

Beckwith-Wiedemann syndrome is an imprinting disorder characterized by overgrowth, congenital malformations and predisposition to tumors. Discover the latest research on Beckwith-Wiedemann Syndrome here.

Related Papers

British Medical Journal
E M CLEMENTSK G PICKETT
Zahnãrztliche Welt, zahnãrztliche Rundschau, ZWR, vereinigt mit Zahnãrztliche Reform
H Nenninger
Ryōikibetsu shōkōgun shirīzu
M Y Momoi
Babis̆ki vestnik
BRENCIC LOJZE
Tribuna Odontologica Do Sindicato Dos Odontologistas Do Estado Da Guanabara
W Cantisano, I J da Ferreira
© 2021 Meta ULC. All rights reserved