De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

Author

RIVIERE, Jean-Baptiste¹ ; MIRZAA, Ghayda M² ; WORTHYLAKE, Thea⁴ ; SULLIVAN, Christopher T¹ ; WARD, Thomas R¹ ; BUTLER, Hailly E¹ ; KRAMER, Nancy A¹⁰ ; ALBRECHT, Beate¹¹ ; ARMOUR, Christine M¹² ; ARMSTRONG, Linlea¹³ ; CALUSERIU, Oana¹⁴ ; CYTRYNBAUM, Cheryl¹⁵ ; O'ROAK, Brian J³ ; DROLET, Beth A^{16 17} ; INNES, Amicheil¹⁴ ; LAUZON, Juliel¹⁴ ; LIN, Angela E¹⁸ ; MANCINI, Grazia M. S¹⁹ ; MESCHINO, Wendy S²⁰ ; REGGIN, James D²¹ ; SAGGAR, Anand K²² ; LERMAN-SAGIE, Tally²³ ; UYANIK, Gokhan²⁴ ; BEDDAOUI, Margaret⁴ ; WEKSBERG, Rosanna¹⁵ ; ZIRN, Birgit²⁵ ; BEAULIEU, Chandree L⁴ ; MAJEWSKI, Jacek; BULMAN, Dennis E; O'DRISCOLL, Mark⁵ ; SHENDURE, Jay³ ; GRAHAM, John M¹⁰ ; BOYCOTT, Kym M^{4 9} ; DOBYNS, William B¹ ; ALCANTARA, Diana⁵ ; CONWAY, Robert L⁶ ; ST-ONGE, Judith¹ ; SCHWARTZENTRUBER, Jeremy A⁷ ; GRIPP, Karen W⁸ ; NIKKEL, Sarah M⁹
[1] Center for Integrative Brain Research, Seattle Children's Hospital, Seattle, Washington, United States
[2] Department of Human Genetics, University of Chicago, Chicago, Illinois, United States
[3] Department of Genome Sciences, University of Washington, Seattle, Washington, United States
[4] Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada
[5] Genome Damage & Stability Centre, University of Sussex, Falmer, Brighton, United Kingdom
[6] Department of Pediatrics and Human Development, Michigan State University, East Lansing, Michigan, United States
[7] Genome Quebec Innovation Centre, McGill University, Montreal, Quebec, Canada
[8] Division of Medical Genetics, A.I. duPont Hospital for Children, Wilmington, Delaware, United States
[9] Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada
[10] Cedars-Sinai Medical Center, Medical Genetics Institute, Los Angeles, California, United States
[11] Department of Human Genetics, University Hospital Essen, Essen, Germany
[12] Department of Paediatrics, Queen's University, Kingston, Ontario, Canada
[13] Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada
[14] Department of Medical Genetics, University of Calgary, Calgary, Alberta, Canada
[15] Division of Clinical and Metabolic Genetics, Hospital for Sick Children, Toronto, Ontario, Canada
[16] Department of Dermatology, Medical College of Wisconsin, Milwaukee, Wisconsin, United States
[17] Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin, United States
[18] Department of Medical Genetics, MassGeneral Hospital for Children, Boston, Massachusetts, United States
[19] Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, Netherlands
[20] Department of Genetics, North York General Hospital, Toronto, Ontario, Canada
[21] Providence Child Neurology, Providence Sacred Heart Medical Center and Children's Hospital, Spokane, Washington, United States
[22] Clinical Genetics Department, St George's Hospital, University of London, London, United Kingdom
[23] Pediatric Neurology Unit, Wolfson Medical Center, Holon, Israel
[24] Institute of Human Genetics, University Medical Center Hamburg―Eppendorf, Hamburg, Germany
[25] Department of Neuropediatrics, University of Goettingen, Goettingen, Germany

Source

Nature genetics. 2012, Vol 44, Num 8, pp 934-940, 7 p ; ref : 43 ref

CODEN

NGENEC

ISSN

1061-4036

Scientific domain

Genetics

Publisher

Nature Publishing Group, New York, NY

Publication country

United States

Document type

Article

Language

English

Keyword (fr)

1-Phosphatidylinositol 3-kinase De novo Lignée germinale Mutation Mégalencéphalie Spectre Syndrome Enzyme Maladie congénitale Malformation Pathologie de l'encéphale Pathologie du système nerveux central Pathologie du système nerveux Transferases

Keyword (en)

1-Phosphatidylinositol 3-kinase De novo Germ line Mutation Megalencephaly Spectrum Syndrome Enzyme Congenital disease Malformation Cerebral disorder Central nervous system disease Nervous system diseases Transferases

Keyword (es)

1-Phosphatidylinositol 3-kinase De novo Línea germinal Mutación Megaloencefalia Espectro Síndrome Enzima Enfermedad congénita Malformación Encéfalo patología Sistema nervosio central patología Sistema nervioso patología Transferases

Classification

Pascal

002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A07 Genetics of eukaryotes. Biological and molecular evolution

Pascal

002 Biological and medical sciences / 002B Medical sciences / 002B17 Neurology / 002B17D Malformations of the nervous system

Pascal

002 Biological and medical sciences / 002B Medical sciences / 002B23 Medical genetics / 002B23E Complex syndromes

Discipline

Eukaryotes genetics. Biological and molecular evolution Medical genetics Neurology

Origin

Inist-CNRS

Database

PASCAL

INIST identifier

26219888

Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS