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.

Keywords: Mosaicism; Mosaic mutation; Detection

Domains: Life Sciences [q-bio]; Life Sciences [q-bio]; Biochemistry, Molecular Biology; Life Sciences [q-bio]; Biochemistry, Molecular Biology; Molecular biology; Life Sciences [q-bio]; Genetics; Human genetics; Life Sciences [q-bio]; Human health and pathology; Endocrinology and metabolism; Life Sciences [q-bio]; Human health and pathology; Pediatrics

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⟩