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

The GNAS postzygotic mosaic activating mutations involved in fibrous dysplasia and McCune-Albright syndrome (MAS) are not detectable in leukocytes by Sanger sequencing. Digital droplet polymerase chain reaction detects GNAS mutations in 7 of 12 patients (58.3%) suspected to have fibrous dysplasia/MAS from whole blood DNA, and in 4 of 5 patients (80%) from circulating cell-free DNA.

Source: The Journal of Pediatrics - November 13, 2018 Category: Pediatrics Authors: Pauline Romanet, Pascal Philibert, Fr édéric Fina, Thomas Cuny, Catherine Roche, L'houcine Ouafik, Françoise Paris, Rachel Reynaud, Anne Barlier Tags: Clinical and laboratory observations Source Type: research