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 - 24/01/19
Doi : 10.1016/j.jpeds.2018.09.070
Pauline Romanet, MD, PhD 1, * 
, Pascal Philibert, MD, PhD 2, Frédéric Fina, PhD 3, Thomas Cuny, MD, PhD 4, Catherine Roche, PhD 1, L'houcine Ouafik, MD, PhD 5, Françoise Paris, MD, PhD 6, Rachel Reynaud, MD, PhD 7, Anne Barlier, MD, PhD 1
, Pascal Philibert, MD, PhD 2, Frédéric Fina, PhD 3, Thomas Cuny, MD, PhD 4, Catherine Roche, PhD 1, L'houcine Ouafik, MD, PhD 5, Françoise Paris, MD, PhD 6, Rachel Reynaud, MD, PhD 7, Anne Barlier, MD, PhD 1 1 Aix Marseille Univ, APHM, INSERM, MMG, Hôpital de la Conception, Laboratory of Molecular Biology, Marseille, France
2 Département de Biochimie et Hormonologie, Hôpital Lapeyronie, CHU Montpellier and Institut de Génétique Humaine, UMR 9002 CNRS-Université de Montpellier, France
3 APHM, Unit of Technology Development, Laboratory of Medical Biology, Marseille, France
4 Aix Marseille Univ, APHM, INSERM, MMG, Hôpital de la Conception, Department of Endocrinology APHM, Marseille, France
5 Marseille Univ, APHM, CNRS, INP UMR7259, Department of Biologic Oncology, Marseille, France
6 CHU Montpellier, Molecular Biology Department, Montpellier; endocrinologie pédiatrique CHU Arnaud de Villeneuve Montpellier, France
7 Aix Marseille Univ, APHM, INSERM, MMG, Hôpital La Timone Enfants, Pediatric Department, Marseille, France
*Reprint requests: Pauline Romanet, MD, PhD, Marseille Medical Genetics, Faculté de médecine de la Timone, 27 Blvd Jean Moulin, Marseille 13 385 CEDEX 05, France.Marseille Medical GeneticsFaculté de médecine de la Timone27 Blvd Jean MoulinMarseille13 385 CEDEX 05France
Abstract |
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.
Le texte complet de cet article est disponible en PDF.Keywords : mosaicism, mosaic mutation, detection
Abbreviations : ccfDNA, ddPC, FA, LOB, MAS, MEMO-PCR, NGS, PCR, PNA, PPP, WT
Plan
| Supported by grants from the French Ministry of Health. The authors declare no conflicts of interest. |
© 2018
Elsevier Inc. Tous droits réservés.
Vol 205
P. 281 - février 2019 Retour au numéro
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