Correspondence on " The ClinGen Brain Malformation Variant Curation Expert Panel: Rules for somatic variants in AKT3, MTOR, PIK3CA, and PIK3R2" by Lai et al

被引：0
|
作者：
Horta, Edgar [1 ,2 ]
Dahlen, Eric [1 ,2 ]
Engel, Camille [3 ,4 ]
Piard, Juliette [3 ,4 ]
Thauvin-Robinet, Christel [2 ,4 ,5 ]
Faivre, Laurence [2 ,4 ,6 ]
Vabres, Pierre [7 ,8 ]
Kuentz, Paul [1 ,2 ,4 ]
机构：
[1] Univ Franche Comte, FHU TRANSLAD, CHU Besancon, Oncobiol Genet Bioinformat, Besancon, France
[2] Inst GIMI, Besancon, France
[3] Univ Franche Comte, Ctr Genet Humaine, CHU Besancon, Besancon, France
[4] Univ Bourgogne, INSERM GAD Genet Anomalies Dev UMR1231, Dijon, France
[5] CHU Dijon, FHU TRANSLAD & Inst GIMI, Unite Fonct Innovat diagnost Malad rares, Dijon, France
[6] CHU Dijon, FHU TRANSLAD & Inst GIMI, Ctr Genet & Ctr reference Anomalies Dev & Deficien, Dijon, France
[7] CHU Dijon, FHU TRANSLAD& Inst GIMI, Ctr Reference MAGEC Nord Malad Rares Peau & Muqueu, Dijon, France
[8] St Thomas Hosp, St Johns Inst Dermatol, Reference Ctr Rare Dis, London, England
来源：
GENETICS IN MEDICINE | 2024年 / 26卷 / 11期
关键词：
D O I：
10.1016/j.gim.2024.101214
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页数：2
相关论文
共 25 条
  • [1] The ClinGen Brain Malformation Variant Curation Expert Panel: Rules for somatic variants in AKT3, MTOR, PIK3CA, and PIK3R2
    Lai, Abbe
    Soucy, Aubrie
    El Achkar, Christelle Moufawad
    Barkovich, Anthony J.
    Cao, Yang
    DiStefano, Marina
    Evenson, Michael
    Guerrini, Renzo
    Knight, Devon
    Lee, Yi-Shan
    Mefford, Heather C.
    Miller, David T.
    Mirzaa, Ghayda
    Mochida, Ganesh
    Rodan, Lance H.
    Patel, Mayher
    Smith, Lacey
    Spencer, Sara
    Walsh, Christopher A.
    Yang, Edward
    Yuskaitis, Christopher J.
    Yu, Timothy
    Poduri, Annapurna
    GENETICS IN MEDICINE, 2022, 24 (11) : 2240 - 2248
  • [2] Megalencephaly syndromes associated with mutations of core components of the PI3K-AKT-MTOR pathway: PIK3CA, PIK3R2, AKT3, and MTOR
    Dobyns, William B.
    Mirzaa, Ghayda M.
    AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS, 2019, 181 (04) : 582 - 590
  • [3] De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes
    Riviere, Jean-Baptiste
    Mirzaa, Ghayda M.
    O'Roak, Brian J.
    Beddaoui, Margaret
    Alcantara, Diana
    Conway, Robert L.
    St-Onge, Judith
    Schwartzentruber, Jeremy A.
    Gripp, Karen W.
    Nikkel, Sarah M.
    Worthylake, Thea
    Sullivan, Christopher T.
    Ward, Thomas R.
    Butler, Hailly E.
    Kramer, Nancy A.
    Albrecht, Beate
    Armour, Christine M.
    Armstrong, Linlea
    Caluseriu, Oana
    Cytrynbaum, Cheryl
    Drolet, Beth A.
    Innes, A. Micheil
    Lauzon, Julie L.
    Lin, Angela E.
    Mancini, Grazia M. S.
    Meschino, Wendy S.
    Reggin, James D.
    Saggar, Anand K.
    Lerman-Sagie, Tally
    Uyanik, Goekhan
    Weksberg, Rosanna
    Zirn, Birgit
    Beaulieu, Chandree L.
    Majewski, Jacek
    Bulman, Dennis E.
    O'Driscoll, Mark
    Shendure, Jay
    Graham, John M., Jr.
    Boycott, Kym M.
    Dobyns, William B.
    NATURE GENETICS, 2012, 44 (08) : 934 - +
  • [4] De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes
    Jean-Baptiste Rivière
    Ghayda M Mirzaa
    Brian J O'Roak
    Margaret Beddaoui
    Diana Alcantara
    Robert L Conway
    Judith St-Onge
    Jeremy A Schwartzentruber
    Karen W Gripp
    Sarah M Nikkel
    Thea Worthylake
    Christopher T Sullivan
    Thomas R Ward
    Hailly E Butler
    Nancy A Kramer
    Beate Albrecht
    Christine M Armour
    Linlea Armstrong
    Oana Caluseriu
    Cheryl Cytrynbaum
    Beth A Drolet
    A Micheil Innes
    Julie L Lauzon
    Angela E Lin
    Grazia M S Mancini
    Wendy S Meschino
    James D Reggin
    Anand K Saggar
    Tally Lerman-Sagie
    Gökhan Uyanik
    Rosanna Weksberg
    Birgit Zirn
    Chandree L Beaulieu
    Jacek Majewski
    Dennis E Bulman
    Mark O'Driscoll
    Jay Shendure
    John M Graham
    Kym M Boycott
    William B Dobyns
    Nature Genetics, 2012, 44 : 934 - 940
  • [5] Diffuse capillary malformation with overgrowth contains somatic PIK3CA variants
    Goss, Jeremy A.
    Konczyk, Dennis J.
    Smits, Patrick
    Sudduth, Christopher L.
    Bischoff, Joyce
    Liang, Marilyn G.
    Greene, Arin K.
    CLINICAL GENETICS, 2020, 97 (05) : 736 - 740
  • [6] New Routes to Old Places: PIK3R1 and PIK3R2 Join PIK3CA and PTEN as Endometrial Cancer Genes
    Herrero-Gonzalez, Sandra
    Di Cristofano, Antonio
    CANCER DISCOVERY, 2011, 1 (02) : 106 - 107
  • [7] AKT3 and PIK3R2 mutations in two patients with megalencephaly-related syndromes: MCAP and MPPH
    Nakamura, K.
    Kato, M.
    Tohyama, J.
    Shiohama, T.
    Hayasaka, K.
    Nishiyama, K.
    Kodera, H.
    Nakashima, M.
    Tsurusaki, Y.
    Miyake, N.
    Matsumoto, N.
    Saitsu, H.
    CLINICAL GENETICS, 2014, 85 (04) : 396 - 398
  • [8] Correspondence to Gripp et al. nephroblastomatosis or Wilms tumor in a fourth patient with a somatic PIK3CA mutation
    Postema, Floor A. M.
    Hopman, Saskia M. J.
    Deardorff, Matthew A.
    Merks, Johannes H. M.
    Hennekam, Raoul C.
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2017, 173 (08) : 2293 - 2295
  • [9] Somatic frameshift mutation in PIK3CA causes CLOVES syndrome by provoking PI3K/AKT/mTOR pathway
    Yan, Wei
    Zhang, Bin
    Wang, Huijun
    Mo, Ran
    Jiang, Xingyuan
    Qin, Wen
    Ma, Lin
    Lin, Zhimiao
    HEREDITAS, 2021, 158 (01)
  • [10] Somatic frameshift mutation in PIK3CA causes CLOVES syndrome by provoking PI3K/AKT/mTOR pathway
    Wei Yan
    Bin Zhang
    Huijun Wang
    Ran Mo
    Xingyuan Jiang
    Wen Qin
    Lin Ma
    Zhimiao Lin
    Hereditas, 158
123