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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 Françoise Paris 3 Rachel Reynaud 1, 2 Anne 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]
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.
Keywords : Mosaicism Mosaic mutation Detection
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Submitted on : Wednesday, January 9, 2019 - 2:36:08 PM
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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. Journal of Pediatrics, Elsevier, 2018. ⟨hal-01975613⟩

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