Skip to Main content Skip to Navigation
Journal articles

Using Digital Droplet Polymerase Chain Reaction to Detect the Mosaic GNAS Mutations in Whole Blood DNA or Circulating Cell-Free DNA in Fibrous Dysplasia and McCune-Albright Syndrome

Pauline Romanet 1, 2 Pascal Philibert 3 Frederic Fina 2 Thomas Cuny 1, 2 Catherine Roche 2 l'Houcine Ouafik 2 Françoise Paris 3 Rachel Reynaud 1, 2 Anne Barlier 2, 1
1 MMG - Marseille medical genetics - Centre de génétique médicale de Marseille
2 APHM - Assistance Publique - Hôpitaux de Marseille
3 CHRU Montpellier - Centre Hospitalier Régional Universitaire [Montpellier]
Abstract : The GNAS postzygotic mosaic activating mutations involved in fibrous dysplasia and Mc Cune Albright syndrome (FD/MAS) are not detectable in leukocytes by Sanger sequencing. Digital droplet PCR™ detects GNAS mutations in 7/12 (58.3%) FD/MAS-suspected patients from whole blood DNA, and in 4/5 patients (80%) from circulating cell-free DNA.
Keywords : Mosaicism Mosaic mutation Detection
Document type :
Journal articles
Complete list of metadata

Cited literature [4 references]  Display  Hide  Download
https://hal-amu.archives-ouvertes.fr/hal-01975613
Contributor : Pauline Romanet <>
Submitted on : Wednesday, January 9, 2019 - 2:36:08 PM
Last modification on : Wednesday, August 19, 2020 - 12:08:21 PM

File

Vignette du document
ROMANET J PEDS 2018.pdf
Publisher files allowed on an open archive

Licence

Distributed under a Creative Commons Attribution 4.0 International License

Identifiers

  • HAL Id : hal-01975613, version 1

Collections

UNIV-AMU | MMG | INP-ATME | INP

Citation

Pauline Romanet, Pascal Philibert, Frederic Fina, Thomas Cuny, Catherine Roche, et al.. Using Digital Droplet Polymerase Chain Reaction to Detect the Mosaic GNAS Mutations in Whole Blood DNA or Circulating Cell-Free DNA in Fibrous Dysplasia and McCune-Albright Syndrome. Journal of Pediatrics, Elsevier, 2018. ⟨hal-01975613⟩

Export

BibTeX TEI DC DCterms EndNote

Share

Metrics

Record views

152

Files downloads

389