PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution

JCI insight - Tập 1 Số 9 - 2016
Ghayda Mirzaa1,2, Andrew E. Timms3, Valerio Conti4, Evan A. Boyle5, Katta M. Girisha6, Beth Martin7, Martin Kircher7, Carissa Olds1, Jan M. Friedman8, Sarah Collins1, Kaylee Park1, Melissa Carter9, Ian Glass1,2, I Krägeloh-Mann10, David Chitayat11,12, Aditi Parikh13, Rachael Bradshaw14, Erin Torti14, Stephen R. Braddock14, Leah W. Burke15, Sondhya Ghedia16, Mark J. Stephan2, Fiona Stewart17, Chitra Prasad18, Melanie Napier18, Sulagna C. Saitta19, Rachel Straussberg20, Michael T. Gabbett21, Bridget C. O’Connor22,23, Catherine E. Keegan22,23, Lim Jiin Yin24, Angeline Lai24, Nicole Martin11, Margaret L. McKinnon25, Marie-Claude Addor26, Luigi Boccuto27, Charles E. Schwartz27, Agustina Lanoël28, Robert L. Conway29, Koenraad Devriendt30, Katrina Tatton–Brown31, Mary Ella Pierpont32, Michael J. Painter33, Lisa Worgan34, James D. Reggin35,36, Raoul C. M. Hennekam37, Karen D. Tsuchiya38,39, Colin C. Pritchard39, Mariana Aracena40, Karen W. Gripp41, Maria Cordisco42, Hilde Van Esch43, Livia Garavelli44, Cynthia J. Curry45, Anne Goriely46, Hülya Kayserili47, Jay Shendure7,48, John M. Graham49, Renzo Guerrini4, William B. Dobyns1,35,2
1Center for Integrative Brain Research and
2Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington, USA.
3Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, Washington, USA
4Pediatric Neurology, Neurogenetics and Neurobiology, Unit and Laboratories, Neuroscience Department, A Meyer Children’s Hospital, University of Florence, Florence, Italy
5Department of Genetics, Stanford University School of Medicine, Stanford, California, USA
6Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, Karnataka, India
7Department of Genome Sciences, University of Washington, Seattle, Washington, USA
8Whole Exome Sequencing Program, GeneDx, Gaithersburg, Maryland, USA.
9Regional Genetics Program, The Children’s Hospital of Eastern Ontario, Ottawa, Ontario, Canada.
10Department of Pediatrics, and Pediatric Neurology and Developmental Medicine, University Children’s Hospital, Tübingen, Germany.
11Department of Pediatrics, Division of Clinical and Metabolic Genetics, University of Toronto, Toronto, Ontario, Canada.
12Mount Sinai Hospital, The Prenatal Diagnosis and Medical Genetics Division, Department of Obstetrics and Gynecology, and
13Center for Human Genetics, University Hospitals Case Medical Center, Cleveland, Ohio, USA.
14Department of Pediatrics, Division of Medical Genetics, Saint Louis University, St. Louis, Missouri, USA.
15Department of Pediatrics, University of Vermont College of Medicine Burlington, Vermont, USA
16Department of Clinical Genetics, Royal North Shore Hospital, St Leonards, New South Wales, Australia.
17Belfast Health and Social Care Trust, Belfast, United Kingdom
18Genetics, Metabolism and Pediatrics, London, Ontario, Canada.
19Clinical Genetics, Center for Personalized Medicine, Children’s Hospital Los Angeles, Keck School of Medicine at University of Southern California, Los Angeles, California, USA.
20Neurology Unit, Schneider Children’s Medical Center of Israel, Petach Tikva, and Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
21School of Medicine, Griffith University, Brisbane, Queensland, Australia
22Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, USA
23Division of Genetics, Department of Pediatrics, and
24Genetics Service, Department of Pediatric Medicine, KK Women’s and Children’s Hospital, Singapore.
25British Columbia Medical Genetics Provincial Program, University of British Columbia, Vancouver, British Columbia, Canada.
26Service de génétique médicale, Centre Hospitalier Universitaire Vaudois CHUV, Switzerland.
27Greenwood Genetic Center, Greenwood, South Carolina, USA;
28Department of Dermatology, Children Hospital Prof. Dr. J. P. Garrahan, Buenos Aires, Argentina.
29Children’s Hospital of Michigan, Wayne State University, Detroit, Michigan, USA.
30Center for Human Genetics, University Hospitals Leuven and KU Leuven, Leuven, Belgium
31South West Thames Regional Genetics Service, St George’s University NHS Foundation Trust, London, and Section of Cancer Genetics, Institute of Cancer Research, Sutton, United Kingdom.
32Department of Pediatrics and Ophthalmology, University of Minnesota, Minneapolis, Minnesota, USA.
33Department of Child Neurology, University of Florida, Jacksonville, Florida, USA.
34Department of Genetics, Liverpool Hospital, Liverpool, New South Wales, Australia.
35Department of Neurology University of Washington Seattle Washington USA
36Providence Child Neurology, Providence Sacred Heart Medical Center and Children’s Hospital, Spokane, Washington, USA.
37Department of Pediatrics and Translational Genetics, Department of Pediatrics, Academic Medical Center, University of Amsterdam Medical Center, Amsterdam, The Netherlands.
38Department of Laboratories, Seattle Children’s Hospital and
39Department of Laboratory Medicine, University of Washington, Seattle, Washington, USA;
40División de Pediatría, Pontificia Universidad Católica de Chile, Pediatra-Genetista, Unidad de Genética, Hospital Dr. Luis Calvo Mackenna, Santiago, Chile.
41Department of Pediatrics, Sidney Kimmel Medical School at T. Jefferson University, Chief of Division of Medical Genetics, A.I. duPont Hospital for Children, Wilmington, Delaware, USA.
42Departments of Dermatology and Pediatrics, University of Rochester School of Medicine and Dentistry, Rochester, New York, USA.
43Center for Human Genetics, University Hospitals Leuven, KU Leuven, Leuven, Belgium
44Clinical Genetics Unit, IRCCS Santa Maria Nuova Hospital, Reggio Emilia, Italy.
45University of California, San Francisco, San Francisco/Genetic Medicine Central California, San Francisco, California, USA.
46Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, United Kingdom
47Koç University, School of Medicine, Medical Genetics Department, Koç University Hospital, Istanbul, Turkey.
48Howard Hughes Medical Institute, Seattle, Washington, USA
49Department of Pediatrics, Cedars-Sinai Medical Center, Harbor-UCLA Medical Center, David Geffen School of Medicine Los Angeles, California, USA.

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