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, 4) , Françoise Paris (3) , Rachel Reynaud (1, 2) , Anne A. 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]
4 INP - Institut de neurophysiopathologie

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.

Mots clés: Mosaicism; Mosaic mutation; Detection

Domaines: Sciences du Vivant [q-bio]; Biochimie, Biologie Moléculaire; Biologie moléculaire; Génétique humaine; Endocrinologie et métabolisme; Pédiatrie

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. The Journal of Pediatrics, 2018. ⟨hal-01975613⟩