Approach to overgrowth syndromes in the genome era

被引：14

作者：

Burkardt, Deepika D. ^{[1
]}

Tatton-Brown, Katrina ^{[2
,3
,4
]}

Dobyns, William ^{[5
,6
]}

Graham, John M., Jr. ^{[7
]}

机构：

[1] Univ Hosp, Ctr Human Genet, Cleveland, OH USA

[2] St Georges Univ Hosp NHS Fdn Trust, South West Thames Reg Genet Serv, London, England

[3] St Georges Univ London, London, England

[4] Inst Canc Res, Surrey, England

[5] Univ Washington, Sch Med, Dept Pediat & Neurol, Seattle, WA USA

[6] Seattle Childrens Hosp, Ctr Integrat Brain Res, Seattle, WA USA

[7] Cedars Sinai Med Ctr, Div Med Genet, Los Angeles, CA 90048 USA

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS | 2019年 / 181卷 / 04期

关键词：

epigenetic regulation; macrocephaly; megalencephaly; overgrowth; METHYLTRANSFERASES; MUTATIONS; DNMT3A; SETD2;

D O I：

10.1002/ajmg.c.31757

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

This introduction to the special issue of AJMG Part C: Overgrowth Syndromes updates the current understanding of overgrowth syndromes. We clarify the terminology associated with overgrowth, review some common pathways to overgrowth and present a preliminary classification based on currently known genomic and epigenetic mechanisms. We introduce the articles of this issue-new research and reviews of well-established and recently described overgrowth syndromes of the brain, body or both.

引用

页码：483 / 490

页数：8

共 45 条

[1]

Abramowicz J. S., 2018, UPTODATE

[2]

Biesecker L., 2019, AM J MED GENETICS C

[3] Eml1 loss impairs apical progenitor spindle length and soma shape in the developing cerebral cortex [J].

Bizzotto, Sara ;

Uzquiano, Ana ;

Dingli, Florent ;

Ershov, Dmitry ;

Houllier, Anne ;

Arras, Guillaume ;

Richards, Mark ;

Loew, Damarys ;

Mine, Nicolas ;

Croquelois, Alexandre ;

Houdusse, Anne ;

Francis, Fiona .

SCIENTIFIC REPORTS, 2017, 7

[4] CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language (vol 9, 4619, 2018) [J].

Blok, Lot Snijders ;

Rousseau, Justine ;

Twist, Joanna ;

Ehresmann, Sophie ;

Takaku, Motoki ;

Venselaar, Hanka ;

Rodan, Lance H. ;

Nowak, Catherine B. ;

Douglas, Jessica ;

Swoboda, Kathryn J. ;

Steeves, Marcie A. ;

Sahai, Inderneel ;

Stumpel, Connie T. R. M. ;

Stegmann, Alexander P. A. ;

Wheeler, Patricia ;

Willing, Marcia ;

Fiala, Elise ;

Kochhar, Aaina ;

Gibson, William T. ;

Cohen, Ana S. A. ;

Agbahovbe, Ruky ;

Innes, A. Micheil ;

Au, P. Y. Billie ;

Rankin, Julia ;

Anderson, Ilse J. ;

Skinner, Steven A. ;

Louie, Raymond J. ;

Warren, Hannah E. ;

Afenjar, Alexandra ;

Keren, Boris ;

Nava, Caroline ;

Buratti, Julien ;

Isapof, Arnaud ;

Rodriguez, Diana ;

Lewandowski, Raymond ;

Propst, Jennifer ;

van Essen, Ton ;

Choi, Murim ;

Lee, Sangmoon ;

Chae, Jong H. ;

Price, Susan ;

Schnur, Rhonda E. ;

Douglas, Ganka ;

Wentzensen, Ingrid M. ;

Zweier, Christiane ;

Reis, Andre ;

Bialer, Martin G. ;

Moore, Christine ;

Koopmans, Marije ;

Brilstra, Eva H. .

NATURE COMMUNICATIONS, 2019, 10

[5] CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language [J].

Blok, Lot Snijders ;

Rousseau, Justine ;

Twist, Joanna ;

Ehresmann, Sophie ;

Takaku, Motoki ;

Venselaar, Hanka ;

Rodan, Lance H. ;

Nowak, Catherine B. ;

Douglas, Jessica ;

Swoboda, Kathryn J. ;

Steeves, Marcie A. ;

Sahai, Inderneel ;

Stumpel, Connie T. R. M. ;

Stegmann, Alexander P. A. ;

Wheeler, Patricia ;

Willing, Marcia ;

Fiala, Elise ;

Kochhar, Aaina ;

Gibson, William T. ;

Cohen, Ana S. A. ;

Agbahovbe, Ruky ;

Innes, A. Micheil ;

Au, P. Y. Billie ;

Rankin, Julia ;

Anderson, Ilse J. ;

Skinner, Steven A. ;

Louie, Raymond J. ;

Warren, Hannah E. ;

Afenjar, Alexandra ;

Keren, Boris ;

Nava, Caroline ;

Buratti, Julien ;

Isapof, Arnaud ;

Rodriguez, Diana ;

Lewandowski, Raymond ;

Propst, Jennifer ;

van Essen, Ton ;

Choi, Murim ;

Lee, Sangmoon ;

Chae, Jong H. ;

Price, Susan ;

Schnur, Rhonda E. ;

Douglas, Ganka ;

Wentzensen, Ingrid M. ;

Zweier, Christiane ;

Reis, Andre ;

Bialer, Martin G. ;

Moore, Christine ;

Koopmans, Marije ;

Brilstra, Eva H. .

NATURE COMMUNICATIONS, 2018, 9

[6] Macrosomic births in the United States: Determinants, outcomes, and proposed grades of risk [J].

Boulet, SL ;

Alexander, GR ;

Salihu, HM ;

Pass, M .

AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY, 2003, 188 (05) :1372-1378

[7] Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement [J].

Brioude, Frederic ;

Kalish, Jennifer M. ;

Mussa, Alessandro ;

Foster, Alison C. ;

Bliek, Jet ;

Ferrero, Giovanni Battista ;

Boonen, Susanne E. ;

Cole, Trevor ;

Baker, Robert ;

Bertoletti, Monica ;

Cocchi, Guido ;

Coze, Carole ;

De Pellegrin, Maurizio ;

Hussain, Khalid ;

Ibrahim, Abdulla ;

Kilby, Mark D. ;

Krajewska-Walasek, Malgorzata ;

Kratz, Christian P. ;

Ladusans, Edmund J. ;

Lapunzina, Pablo ;

Le Bouc, Yves ;

Maas, Saskia M. ;

Macdonald, Fiona ;

Ounap, Katrin ;

Peruzzi, Licia ;

Rossignol, Sylvie ;

Russo, Silvia ;

Shipster, Caroleen ;

Skorka, Agata ;

Tatton-Brown, Katrina ;

Tenorio, Jair ;

Tortora, Chiara ;

Gronskov, Karen ;

Netchine, Irene ;

Hennekam, Raoul C. ;

Prawitt, Dirk ;

Tumer, Zeynep ;

Eggermann, Thomas ;

Mackay, Deborah J. G. ;

Riccio, Andrea ;

Maher, Eamonn R. .

NATURE REVIEWS ENDOCRINOLOGY, 2018, 14 (04) :229-249

[8] LRP1 mediates Hedgehog-induced endocytosis of the GPC3-Hedgehog complex [J].

Capurro, Mariana I. ;

Shi, Wen ;

Filmus, Jorge .

JOURNAL OF CELL SCIENCE, 2012, 125 (14) :3380-3389

[9] NSD1 mutations generate a genome-wide DNA methylation signature [J].

Choufani, S. ;

Cytrynbaum, C. ;

Chung, B. H. Y. ;

Turinsky, A. L. ;

Grafodatskaya, D. ;

Chen, Y. A. ;

Cohen, A. S. A. ;

Dupuis, L. ;

Butcher, D. T. ;

Siu, M. T. ;

Luk, H. M. ;

Lo, I. F. M. ;

Lam, S. T. S. ;

Caluseriu, O. ;

Stavropoulos, D. J. ;

Reardon, W. ;

Mendoza-Londono, R. ;

Brudno, M. ;

Gibson, W. T. ;

Chitayat, D. ;

Weksberg, R. .

NATURE COMMUNICATIONS, 2015, 6

[10]

Cohen M., 2002, Overgrowth Syndromes

← 1 2 3 4 5 →