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


  • Romanet Pauline
  • Philibert Pascal
  • Fina Frederic
  • Cuny Thomas
  • Roche Catherine
  • Ouafik l'Houcine
  • Paris Françoise
  • Reynaud Rachel
  • Barlier Anne


  • Mosaicism
  • Mosaic mutation
  • Detection

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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.

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