Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing.
Paul KuentzJudith St-OngeYannis DuffourdJean-Benoît CourcetVirginie CarmignacThibaud JouanArthur SorlinClaire Abasq-ThomasJuliette AlbuissonJeanne AmielDaniel AmramStéphanie ArpinTania Attie-BitachNadia Bahi-BuissonSébastien BarbarotGeneviève BaujatDidier BessisOlivia BoccaraMaryse BonnièreOdile BouteAnne-Claire BursztejnChristine ChiaveriniValerie Cormier-DaireChristine CoubesBruno DelobelPatrick EderySalima El ChehadehChristine FrancannetDavid GenevieveAlice GoldenbergDamien HayeBertrand IsidorMarie-Line JacquemontPhilippe Khau Van KienDidier LacombeLudovic MartinJelena MartinovicAnnabel MaruaniMichèle Mathieu-DramardJuliette Mazereeuw-HautierCaroline MichotMignot CyrilJuliette MiquelFanny Morice-PicardFlorence PetitAlice PhanMassimiliano RossiRenaud TouraineAlain VerloesMarie VincentCatherine Vincent-DelormeSandra WhalenMarjolaine WillemsNathalie MarleDaphne LehalleJulien ThevenonChristel Thauvin-RobinetChristel Thauvin-RobinetLaurence FaivrePierre VabresJean-Baptiste RivièrePublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2017)
Our data demonstrate the value of ultradeep NGS for molecular diagnosis of PROS, highlight its substantial allelic heterogeneity, and confirm that optimal diagnosis requires fresh skin or surgical samples from affected regions. Our findings may be of value in guiding future recommendations for genetic testing in PROS and other mosaic conditions.Genet Med advance online publication 02 February 2017.