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

authors

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

keywords

• Mosaicism
• Mosaic mutation
• Detection

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.

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