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

Finding of Rare Disease Genes (FORGE) Canada Consortium, Rivière, Jean-Baptiste, Mirzaa, Ghayda M, O'Roak, Brian J, Beddaoui, Margaret, Alcantara, Diana, Conway, Robert L, St-Onge, Judith +33 more·2012·Nature Genetics

Cited by (742)

Items 601–700 of 742

  1. Mirror syndromes regarding AKT3 mutations: Loss of function variant leading to microcephaly
    Claudia Ciaccio, Elena Cellini, Renzo Guerrini, Chiara Pantaleoni, Riccardo Masson · 2020 · American Journal of Medical Genetics Part A
  2. Congenital Aberrant Muscular Overgrowth of Hands and Feet in Patients With PIK3CA Overgrowth Spectrum: A Multicentric Study of Case Series
    Carlos Delgado‐Miguel, Miriam Miguel‐Ferrero, Antonio Jesús Muñoz-Serrano, Paloma Triana, Víctor Martínez-González, Lara Rodríguez‐Laguna, María del Carmen Boente, Antonio Torrelo, Juan Carlos López‐Gutiérrez · 2021 · Journal of Vascular Anomalies
  3. Genetic testing in vascular and lymphatic malformations
    Stefano Paolacci, Raul Ettore Mattassi, D Cavalca, Sandro Michelini, Alessandra Zulian, Francesca Cristofoli, Elena Manara, Giuseppe Marceddu, Matteo Bertelli · 2021 · Italian Journal of Vascular and Endovascular Surgery
  4. Megalencephaly-capillary malformation syndrome and associated hydrocephalus: treatment options and revision of the literature
    Mariana Alamar, Santiago Candela, Alain Flor-Goikoetxea, Héctor Salvador, Antonio Federico Martínez‐Monseny, Jordi Muchart, José Hinojosa · 2021 · Child s Nervous System
  5. Mosaicism in rare disease
    Bracha Erlanger Avigdor, Ikeoluwa Osei‐Owusu, Jonathan Pevsner · 2021 · Elsevier eBooks
  6. Phenotypic Trade-Offs: Deciphering the Impact of Neurodiversity on Drug Development in Fragile X Syndrome
    Truong An Bui, Julie Shatto, Tania Cuppens, Arnaud Droit, François V. Bolduc · 2021 · Frontiers in Psychiatry
  7. Vascular Anomalies of the Head and Neck
    M. Elise Graham, Jonathan A. Perkins, Johannes Fredrik Grimmer · 2021 · Elsevier eBooks
  8. Wilms Tumor
    Joyce Tannenbaum Turner, Leslie Ann Doros, Jeffrey S. Dome · 2021 · Springer eBooks
  9. Clinical and genetic analysis of patients with segmental overgrowth features and somatic mammalian target of rapamycin (mTOR) pathway disruption: Possible novel clinical issues
    Ferruccio Romano, Francesca Madia, Patrizia De Marco, Marzia Ognibene, Sara Guerrisi, Marcello Scala, Michele Iacomino, Sımona Baldassari, Nadia Vercellino, Francesca Manunza et al. · 2022 · Birth Defects Research
  10. NSD 1 , EZH 2 and DNMT 3 A Overgrowth Genes and Their Associated Overgrowth Syndromes
    Katrina Tatton‐Brown · 2014 · Encyclopedia of Life Sciences
  11. Hippocampal Sclerosis, Granule Cell Dispersion, and Cortical Dysplasia
    Maria Thom · 2018
  12. Tissue-wide Effects Overrule Cell-intrinsic Gene Function in Cortical Projection Neuron Migration
    Andi H. Hansen, Florian M. Pauler, Michael Riedl, Carmen Streicher, Anna Heger, Susanne Laukoter, Christoph Sommer, Armel Nicolas, Björn Hof, LH Tsai et al. · 2022 · bioRxiv (Cold Spring Harbor Laboratory)
  13. PI3K/AKT/mTOR Signalling Inhibitor Chrysophanol Ameliorates Neurobehavioural and Neurochemical Defects in Propionic Acid-induced Experimental Model of Autism
    Aarti Sharma, Sidharth Mehan · 2021 · Research Square
  14. Developmental Characterization of Neuronal Migration Anomalies and Axon Proliferation in mTOR pathway-associated Malformations of Cortical Development
    Paige B. Hoffman, Matthew N. Svalina, Chiara A. Flores, Christine R. Brzezinski, J. Keenan Kushner, Brandon L. Staple, Santos J. Franco, Allyson Alexander · 2023 · bioRxiv (Cold Spring Harbor Laboratory)
  15. Genome-wide CRISPRi Screen in Human iNeurons to Identify Novel Focal Cortical Dysplasia Genes
    Andrew M. Tidball, Jing-Hui Luo, J. Walker, T. Takla, G. Carvill, Jack M. Parent · 2023 · bioRxiv
  16. Disorders Affecting Cutaneous Vasculature
    A. Dompmartin, Nicole Revençu, Laurence Myriam Boon, Miikka Vikkula · 2024
  17. Orthogonal Modes of Gene Expression Evolution Shape Human Neocortical Development and Disease Vulnerability
    Xuanhao D. Zhou, Yuki Yamauchi, Kazuo Emoto, Ikuo K. Suzuki · 2025 · bioRxiv (Cold Spring Harbor Laboratory)
  18. PIK3CA-related overgrowth spectrum (PROS) zebrafish models reveal pan-lineage developmental dysregulation
    Hannah Brunsdon, Nuoya Wang, Micha Sam Brickman Raredon, Ralitsa Radostinova Madsen, Robert K. Semple, E. Elizabeth Patton · 2026 · eLife
  19. Clinical deep sequencing to diagnose pathogenic mosaic variants in malformations of cortical development and epilepsy
    Katelyn Stone, Gillian Prinzing, Abbe Lai, Lacey A. Smith, Beth Rosen Sheidley, Meagan M. Corliss, Kevin M. Bowling, Yang Cao, Kimberly Wiltrout, Scellig S. D. Stone et al. · 2026 · medRxiv
  20. Brain X chromosome inactivation is not random and can protect from paternally inherited neurodevelopmental disease
    Eric R Szelenyi, Danielle Fisenne, Joseph E. Knox, Julie A. Harris, James Gornet, Ramesh Palaniswamy, Yongsoo Kim, Kannan Umadevi Venkataraju, Pavel Osten · 2018 · bioRxiv (Cold Spring Harbor Laboratory)
  21. Overview of Next Generation, High-Throughput Molecular Genetic Methods
    Jonathan J. Rios · 2015 · Springer eBooks
  22. De la Cabalá y el mosaicismo somático en el sistema nervioso central
    Marcelo Andrés Kauffman · 2015 · Neurología Argentina
  23. Exomsequenzierung zur Identifizierung von Krankheitsgenen für seltene Syndrome
    Fanny Kortüm, Hengameh Abdollahpour, Malik Alawi, Georg Christoph Korenke, E Seemanová, Sigrid Tinschert, Martin Zenker, Georg Rosenberger, Kerstin Kutsche · 2014 · Medizinische Genetik
  24. Whole-Exome Sequencing of Patients with Severe Disorders of Insulin Action
    Robert K. Semple, Inês Barroso · 2014 · Frontiers in diabetes
  25. Application of Next-Generation Sequencing of Nuclear Genes for Mitochondrial Disorders
    Valeria Vasta, Si Houn Hahn · 2013 · Springer eBooks
  26. Critical Roles of the AKT Substrate Girdin in Disease Initiation and Progression
    Atsushi Enomoto, Liang Weng, Masahide Takahashi · 2015 · Springer eBooks
  27. Extensive Capillary Malformation and Hemihypertrophy in a 37-Week-Gestation Infant
    Grace H. Nam, T. Allen Merritt, Douglas D. Deming, Robin Dawn Clark, June‐Anne Gold · 2015 · NeoReviews
  28. Four-year follow-up of megalencephaly, polymicrogyria, postaxial polydactyly and hydrocephalus (MPPH) syndrome
    Tara Zamora, Kari E. Roberts · 2013 · BMJ Case Reports
  29. Mosaic Activating Mutations in GNA11 and GNAQ Are Associated with Phakomatosis Pigmentovascularis and Extensive Dermal
    Melanocytosis C. Thomas, Zhiqiang Zeng, Lara Al-Olabi, David J. Atherton, Lorea Bagazgoitia, Emmanuelle Bourrat, C. Chiavérini, Wui Khean Chong, Yannis Duffourd, Mary Glover et al. · 2016
  30. C URRENT OPINION Hemimegalencephaly, a paradigm for somatic postzygotic neurodevelopmental disorders
    Seung Tae Baek, Elizabeth M. Gibbs, Joseph G. Gleeson, Gary W. Mathern · 2013
  31. Abnormal Body Size and Proportion
    John M. Graham, Deepika D’Cunha Burkardt, David L. Rimoin · 2013 · Elsevier eBooks
  32. Molecular Genetics and Prenatal Diagnosis
    Aubrey Milunsky, Clinton T. Baldwin, Jeff M. Milunsky · 2015 · Wiley eBooks
  33. PIK3R2 (p85β) – Phosphatidylinositol 3-Kinase β-Subunit
    Ali Salajegheh · 2016 · Springer eBooks
  34. Malformations of Cortical Development in Newborns: Genetic Aspects
    Renzo Guerrini, Elena Parrini · 2016 · Springer eBooks
  35. Anomalías vasculares superficiales: malformaciones vasculares
    Morgane Barreau, A. Dompmartin · 2017 · EMC - Dermatología
  36. Insulin Signaling Pathways in Humans and Plants
    Xiu‐Qing Li, Tim Xing · 2017
  37. Somatic Genome Variation: What it is and What it Means for Agriculture and Human Health
    Xiu‐Qing Li · 2017 · Wiley eBooks
  38. Rare Diseases: How Genomics has Transformed Thinking, Diagnoses and Hope for Affected Families
    Pierre Meulien, Paul F. Lasko, Alex MacKenzie, Cindy Bell, Kym M. Boycott · 2013 · Communications in medical and care compunetics
  39. Klippel-Trenauney syndrome with axillary hyperhidrosis
    Yeun Jina Lim, David M. Rosmarin, Giannoula Lakka Klement, Shiu-chung Au · 2017 · Dermatology Online Journal
  40. Novel Algorithm Development for ‘NextGeneration’ Sequencing Data Analysis
    Agne Antanaviciute · 2017 · White Rose eTheses Online (University of Leeds, The University of Sheffield, University of York)
  41. Hydrocephalus Associated with Cerebral Malformations
    Kazuaki Shimoji, Masakazu Miyajima, Daniele Cascone, Giuseppe Cinalli, Hajime Arai · 2018 · Springer eBooks
  42. THE CONTRIBUTION OF MOSAIC MUTATION TO AUTISM SPECTRUM DISORDER
    Donald N. Freed · 2017
  43. Improved Structural Variation Detection Facilitates the Discovery of Somatic Mutations in Single Post-Mitotic Neurons
    Gregory G. Faust · 2015
  44. Canonical Wnt Mechanisms in Neural Crest Induction
    Mark Perfetto · 2019
  45. Mosaicism and the genetic architecture of congenital heart disease
    Alexander Hsieh · 2019
  46. Genomic variability
    Josefina Perez-Maturo, Valeria Salinas, Marcelo Andrés Kauffman · 2020 · Elsevier eBooks
  47. Rare genetic causes of microcephaly and megalencephaly
    Melinda Zombor · 2020
  48. Enhancing mitochondrial activity in neurons protects against neurodegeneration in CNS inflammation
    Sina Cathérine Rosenkranz, Artem Shaposhnykov, Simone Träger, Jan Broder Engler, Maarten E. Witte, Vanessa Roth, Vanessa Vieira, Nanne J. Paauw, Simone Bauer, Celina Schwencke-Westphal et al. · 2020 · bioRxiv (Cold Spring Harbor Laboratory)
  49. Asymmetric Overgrowth and a Facial Port Wine Stain
    Peter Seiringer, Tilo Biedermann, Christina Schnopp · 2020 · The Journal of Pediatrics
  50. Genetics of Epilepsy
    Anthony L. Fine, Lily C. Wong‐Kisiel, Raj D. Sheth · 2021 · Epilepsy
  51. Somatic Embryonic FGFR2 Mutations in Keratinocytic Epidermal Nevi
    Guy Shalom, Dana Cohen, Pilar Nos, Salvador Benlloch, Ponce J. Hidrade, Lucy S. Ostlere, Mortimer Ps, EF Stange, Travis Sp, Séverine Vermeire et al. · 2016
  52. Molecular Genetics and Prenatal Diagnosis
    Jeff M. Milunsky · 2021 · Wiley eBooks
  53. The Names of Things: The 2018 Bernard Sachs Lecture
    William B. Dobyns · 2021 · Pediatric Neurology
  54. Pluripotent stem cell–derived brain-region-specific organoids
    Phuong Trang Nguyen, Hongjun Song, Guo‐li Ming · 2021 · Elsevier eBooks
  55. William B. Dobyns
    Elliott H. Sherr · 2021 · Elsevier eBooks
  56. Neurons and mechanism of epileptic associated genes in brain network: current concepts and future perspectives
    Rajkumar Prabhakaran, Meenakshi Sundari Rajendran, Poornima Kannappan · 2021
  57. Faculty Opinions recommendation of Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly.
    Christel Depienne · 2017 · Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature
  58. Faculty Opinions recommendation of Towards in vivo focal cortical dysplasia phenotyping using quantitative MRI.
    Robert Greenwood · 2019 · Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature
  59. Faculty Opinions recommendation of Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability.
    Santhosh Girirajan · 2019 · Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature
  60. Faculty Opinions recommendation of Somatic Activating Mutations in GNAQ and GNA11 Are Associated with Congenital Hemangioma.
    Keith Adam Choate · 2019 · Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature
  61. Hemimegalencephaly
    2017 · Elsevier eBooks
  62. Malformations of Cortical Development in Newborns: Genetic Aspects
    Renzo Guerrini, Elena Parrini · 2018 · Springer eBooks
  63. Vascular Overgrowth
    Kelly J. Duffy, Michael E. Kelly, David P Bick · 2016 · Molecular and translational medicine
  64. Malformations of Cortical Development in Newborns: Genetic Aspects
    Renzo Guerrini, Elena Parrini · 2018 · Springer eBooks
  65. Hemimegalencephaly
    2016 · Elsevier eBooks
  66. PIK3CA mutations in the endocrine organs
    Elan Hahn · 2022 · Diagnostic histopathology
  67. Anomalies vasculaires révélant une génodermatose
    O. Boccara · 2022 · Annales de Dermatologie et de Vénéréologie - FMC
  68. Phospholipid signaling: phosphoinositide kinases and phosphatases
    Takeshi Ijuin, Takehiko Sasaki · 2022 · Elsevier eBooks
  69. Hydrocephalus and genetic disorders
    Amauri Dalla Corte, Fabiano de Oliveira Poswar, Roberto Giugliani · 2022 · Elsevier eBooks
  70. The Major Categories of Mosaicism
    Rudolf Happle, Antonio Torrelo · 2022 · Springer eBooks
  71. Nevi
    Rudolf Happle, Antonio Torrelo · 2022 · Springer eBooks
  72. Less Well-Defined or So Far Unclassifiable Patterns
    Rudolf Happle, Antonio Torrelo · 2022 · Springer eBooks
  73. Evaluation of Treatment Patterns and Outcomes of Patients With PIK3CA-related Overgrowth Spectrum
    Nicole M. Engel-Nitz, Carolyn K. Martin, Sanjeev Balu, Ilona J. Frieden, Amy J. Anderson, Angela Belland, Mary Lisha Paul · 2022 · Journal of Vascular Anomalies
  74. CSF Bypass Surgery in Children with Hydrocephalus: Modern Possibilities, Prospects and Ways of Solving the Correction of Complications
    Konstantin Aleksandrovich Samochernykh, Yulia M. Zabrodskaya, Mikhail Sergeevich Nikolaenko, Olga N. Gaykova, Aleksandr V. Kim, Потемкина Елена Геннадьевна, А. П. Герасимов, Nikita Konstantinovich Samochernykh, Alexey Aleksandrovich Petukhov, Eleonora Tuuganbaevna Nazaralieva et al. · 2023 · IntechOpen eBooks
  75. Hydranencéphalie, à propos d’un cas au centre hospitalier universitaire de Kara
    S.M. Talboussouma, O.-B. Tchagbele, K.A.R. Ségbédji, K.P. Gbodjome, K.D. Azoumah · 2023 · Périnatalité
  76. Einfluss einer mTOR-Überaktivierung auf die neuronale Zellmorphologie in-vitro
    Ludwig, Johannes · 2023
  77. Tandem pediatric neurosurgery: treatment of synostosis and intractable epilepsy. Illustrative case
    Ogechukwu Ariwodo, Douglas R. Nordli, Nathan J. Ranalli, Alexandra D. Beier · 2023 · Journal of Neurosurgery Case Lessons
  78. Identificação de mutações associadas às Displasias Corticais Focais utilizando abordagens genômicas
    Vanessa Simão de Almeida · 2021
  79. Pediatrik Kulak Burun Boğaz Hastalıkları
    Özgül Gergin, Burak Erkmen, Melike Pınar Ünsal, Pınar Yıldırım Özkan, Ahu Baysal Çitil, Hüseyin Çubuk, Mahmut Ozan Fındık, Caner AKUFUK, Muhammed Semih Gedik, Ahmet Adnan Cırık et al. · 2024 · Akademisyen Kitabevi eBooks
  80. Brain Mosaicism in Epileptogenic Cortical Malformations
    Théo Ribierre, Stéphanie Baulac · 2024
  81. Human Epilepsy Gene Discovery
    Emily S. Bonkowski, Heather C. Mefford · 2024
  82. Cerebral malformations
    Renzo Guerrini, Elena Parrini · 2024 · Elsevier eBooks
  83. Neuronal Proliferation
    Alissa M. D’Gama, Annapurna Poduri, Joseph J. Volpe · 2024 · Elsevier eBooks
  84. Rethinking the Evolutionary Origin, Function, and Treatment of Cancer
    A. V. Lichtenstein · 2025 · Biochemistry (Moscow)
  85. Focal Structural Epilepsy
    Christopher J. Yuskaitis, Annapurna Poduri · 2025 · Elsevier eBooks
  86. Hydrocephalus, Cysts, and Cystic Malformations
    Hannah M. Tully, Jason Scott Hauptman · 2025 · Elsevier eBooks
  87. Neurogenetics in the Genome Era
    Wei-Liang Chen, Andrea Lynne Gropman, William B. Dobyns · 2025 · Elsevier eBooks
  88. Categories of Cutaneous Mosaicism
    Rudolf Happle · 2025 · JEADV Clinical Practice
  89. Selected Hereditary Diseases
    Dawn H. Siegel, Kari Lyn Martin, Jennifer L. Hand · 2015 · Elsevier eBooks
  90. Vascular Malformations
    Sheilagh Maguiness, Maria C. Garzón · 2015 · Elsevier eBooks
  91. Nonsense, but not frameshift, truncating mutations result in Cyclin D2 stabilisation in an induced pluripotent stem cell model of MPPH
    Erica L. Harris, Rowan D. Taylor, Katarzyna Szymańska, Ailsa M.S. Rose, Jacquelyn Bond, Colin A. Johnson, James A. Poulter · 2025 · bioRxiv (Cold Spring Harbor Laboratory)
  92. Low lymphozyte pool, colon perforation and hydrocephalus as clinical features in an infant with a postzygotic PIK3CA variant
    Ximena León-Lara, Sarina Ravens, Sandra v. Hardenberg, Bernd Auber, Anke Katharina Bergmann, Laura Ospina-Quintero, Florian Guthmann, Christiane Wübbena, Jan Brechler, Jürgen Weidemann et al. · 2025 · Frontiers in Pediatrics
  93. PIK3CA-Related Phenotypes due to Germline and Somatic Mosaic Variants: A two-Case Report
    Nazli Busra Acikgoz, Damla Yildiz, Gizem Ürel Demir, Gülen Eda Ütine, Pelin Özlem Şimşek‐Kiper · 2025 · Molecular Syndromology
  94. PIK3CA-related overgrowth spectrum (PROS) zebrafish models reveal pan-lineage developmental dysregulation
    Hannah Brunsdon, Nuoya Wang, Micha Sam Brickman Raredon, Ralitsa Radostinova Madsen, Robert K. Semple, E. Elizabeth Patton · 2025 · bioRxiv (Cold Spring Harbor Laboratory)
  95. Early death and neuronal abnormalities in depdc5 loss-of-function mosaic zebrafish models
    Sneham Tiwari, Christopher M. LaCoursiere, Hyun Yong Koh, Joseph Pascucci, Parul Chaudhary, Richard D. Goldstein, Annapurna Poduri · 2025 · bioRxiv (Cold Spring Harbor Laboratory)
  96. Bildgebung bei Fehlbildungen der kortikalen Entwicklung: ein Update
    Julia Martins Brunelli, Thiago José Pinheiro Lopes, Isabela dos Santos Alves, Daniel S. Delgado, Hae W. Lee, Maria da Graça Morais Martin, Marcos F. L. Docema, Samya S. Alves, Paula C. Pinho, Vinícius Tomaz Gonçalves et al. · 2025 · Neuroradiologie Scan
  97. Somatic Mutations in Overgrowth Syndromes
    Jonathan J. Rios, Marybeth Ezaki · 2015 · Springer eBooks
  98. Additional file 1 of Phenotypic and genetic spectrum of isolated macrodactyly: somatic mosaicism of PIK3CA and AKT1 oncogenic variants
    Wen Tian, Yingzhao Huang, Sun, Liying, Yang Guo, Zhao, Sen, Lin, Mao, Dong, Xiying, Wenyao Zhong, Yuehan Yin, Chen, Zefu et al. · 2020 · Figshare
  99. Additional file 3 of Large-scale analysis of de novo mutations identifies risk genes for female infertility characterized by oocyte and early embryo defects
    Li, Qun, Zhao, Lin, Yang Zeng, Kuang, Yanping, Yichun Guan, Biaobang Chen, Shiru Xu, Tang, Bin, Ling Wu, Xiaoyan Mao et al. · 2024 · Figshare
  100. Additional file 1 of Modeling PTEN overexpression-induced microcephaly in human brain organoids
    Navroop K. Dhaliwal, Wendy W. Y. Choi, Julien Muffat, Yun Li · 2021 · Figshare