Article
PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution.
JCI insight - 16 Jun 2016
Mirzaa Ghayda, Timms Andrew E, Conti Valerio, Boyle Evan August, Girisha Katta M, Martin Beth, Kircher Martin, Olds Carissa, Juusola Jane, Collins Sarah, Park Kaylee, Carter Melissa, Glass Ian, Krägeloh-Mann Inge, Chitayat David, Parikh Aditi Shah, Bradshaw Rachael, Torti Erin, Braddock Stephen, Burke Leah, Ghedia Sondhya, Stephan Mark, Stewart Fiona, Prasad Chitra, Napier Melanie, Saitta Sulagna, Straussberg Rachel, Gabbett Michael, O'Connor Bridget C, Keegan Catherine E, Yin Lim Jiin, Lai Angeline Hwei Meeng, Martin Nicole, McKinnon Margaret, Addor Marie-Claude, Boccuto Luigi, Schwartz Charles E, Lanoel Agustina, Conway Robert L, Devriendt Koenraad, Tatton-Brown Katrina, Pierpont Mary Ella, Painter Michael, Worgan Lisa, Reggin James, Hennekam Raoul, Tsuchiya Karen, Pritchard Colin C, Aracena Mariana, Gripp Karen W, Cordisco Maria, Van Esch Hilde, Garavelli Livia, Curry Cynthia, Goriely Anne, Kayserilli Hulya, Shendure Jay, Graham John, Guerrini Renzo, Dobyns William B
Abstract excerpt
Mosaicism is increasingly recognized as a cause of developmental disorders with the advent of next-generation sequencing (NGS). Mosaic mutations of PIK3CA have been associated with the widest spectrum of phenotypes associated with overgrowth and vascular malformations. We performed targeted NGS using 2 independent deep-coverage methods that utilize molecular inversion probes and amplicon sequencing in a cohort of...
Topics
- Class I Phosphatidylinositol 3-Kinases
- Female
- Genetic Association Studies