Unraveling facets of MECOM-associated syndrome: somatic genetic rescue, clonal hematopoiesis, and phenotype expansion

被引：1

作者：

Venugopal, Parvathy ^{[1
,2
,3
,4
]}

Arts, Peer ^{[1
,2
,3
,4
]}

Fox, Lucy C. ^{[5
,6
,7
,8
]}

Simons, Annet ^{[10
]}

Hiwase, Devendra K. ^{[1
,4
,11
,12
]}

Bardy, Peter G. ^{[4
,13
]}

Swift, Annette ^{[9
,14
]}

Ross, David M. ^{[2
,3
,13
,15
]}

van Vulpen, Lize F. D. ^{[16
]}

Buijs, Arjan ^{[17
]}

Bolton, Kelly L. ^{[18
]}

Getta, Bartlomiej ^{[19
]}

Furlong, Eliska ^{[20
]}

Carter, Tina ^{[20
]}

Krapels, Ingrid ^{[21
]}

Hoeks, Marlijn ^{[22
]}

Al Kindy, Adila ^{[23
,24
]}

Al Kindy, Farah ^{[23
,24
]}

de Munnik, Sonja ^{[9
,25
]}

Evans, Pamela ^{[26
]}

Frank, Mahalia S. B. ^{[1
,2
,3
]}

Bournazos, Adam M. ^{[27
,28
]}

Cooper, Sandra T. ^{[27
,29
]}

Ha, Thuong Thi ^{[1
,3
,30
]}

Jackson, Matilda R. ^{[1
,2
,3
,31
]}

Arriola-Martinez, Luis ^{[1
]}

Phillips, Kerry ^{[32
]}

Brennan, Yvonne ^{[11
]}

Bakshi, Madhura ^{[33
]}

Ambler, Karen ^{[1
]}

Gao, Song ^{[1
]}

Kassahn, Karin S. ^{[1
,4
]}

Kenyon, Rosalie ^{[3
,30
]}

Hung, Kevin ^{[11
]}

Babic, Milena ^{[1
]}

Mcgovern, Alan ^{[1
]}

Rawlings, Lesley ^{[1
]}

Vakulin, Cassandra ^{[1
]}

Dejong, Lucas ^{[1
]}

Fathi, Rema ^{[1
]}

Mcrae, Simon ^{[34
]}

Myles, Nicholas ^{[4
,14
]}

Ladon, Dariusz ^{[1
]}

Jongmans, Marjolijn ^{[18
,35
]}

Kuiper, Roland P. ^{[18
,35
]}

Poplawski, Nicola K. ^{[32
]}

Barbaro, Pasquale ^{[14
]}

Blombery, Piers ^{[5
]}

Brown, Anna L. ^{[1
,2
,3
,4
]}

Hahn, Christopher N. ^{[1
,2
,3
,4
]}

机构：

[1] SA Pathol, Dept Genet & Mol Pathol, Adelaide, SA, Australia

[2] SA Pathol, Ctr Canc Biol, Adelaide, SA, Australia

[3] Univ South Australia, Adelaide, SA, Australia

[4] Univ Adelaide, Adelaide Med Sch, Adelaide, SA, Australia

[5] Peter MacCallum Canc Ctr, Dept Pathol, Melbourne, Vic, Australia

[6] Peter MacCallum Canc Ctr, Clin Haematol, Melbourne, Vic, Australia

[7] Royal Melbourne Hosp, Melbourne, Vic, Australia

[8] Univ Melbourne, Fac Med Dent & Hlth Sci, Parkville, Vic, Australia

[9] Radboud Univ Nijmegen, Nijmegen Ctr Mol Life Sci, Dept Human Genet, Med Ctr, Nijmegen, Netherlands

[10] Radboud Univ Nijmegen, Radboud Inst Oncol, Med Ctr, Nijmegen, Netherlands

[11] Royal Adelaide Hosp, Cent Adelaide Local Hlth Network, Adelaide, SA, Australia

[12] South Australian Hlth & Med Res Inst, Precis Med Theme, Adelaide, SA, Australia

[13] Royal Adelaide Hosp, Dept Clin Haematol & Bone Marrow Transplantat, Adelaide, SA, Australia

[14] Queensland Childrens Hosp, Dept Paediat Haematol, South Brisbane, Qld, Australia

[15] Flinders Med Ctr, Dept Haematol, Adelaide, SA, Australia

[16] Univ Utrecht, Univ Med Ctr Utrecht, Ctr Benign Haematol Thrombosis & Haemostasis, Van Creveldkliniek, Utrecht, Netherlands

[17] Univ Med Ctr, Dept Genet, Utrecht, Netherlands

[18] Washington Univ, Dept Med, Div Oncol, Sch Med, St. Louis, MO USA

[19] Liverpool Hosp, Dept Haematol, Liverpool, NSW, Australia

[20] Perth Childrens Hosp, Dept Clin Haematol Oncol Blood & Marrow Transplant, Perth, WA, Australia

[21] Maastricht Univ, Dept Clin Genet, Med Ctr, Maastricht, Netherlands

[22] Radboud Univ Nijmegen, Dept Hematol, Med Ctr, Nijmegen, Netherlands

[23] Sultan Qaboos Univ Hosp, Genet & Dev Med Clin, Muscat, Oman

[24] Sultan Qaboos Univ, Dept Genet, Muscat, Oman

[25] Maastricht Univ, Dept Clin Genet, Med Ctr, Maastricht, Netherlands

[26] Childrens Hlth Ireland Crumlin, Dublin, Ireland

[27] Childrens Hosp Westmead, Kids Neurosci Ctr, Westmead, NSW, Australia

[28] Childrens Med Res Inst, Westmead, NSW, Australia

[29] Univ Sydney, Fac Hlth & Med, Sch Med, Sydney, NSW, Australia

[30] SA Pathol, Ctr Canc Biol, ACRF Genom Facil, Adelaide, SA, Australia

[31] Australian Genom, Parkville, Vic, Australia

[32] Royal Adelaide Hosp, Adult Genet Unit, Adelaide, SA, Australia

[33] Liverpool Hosp, Dept Clin Genet, Liverpool, NSW, Australia

[34] Western Haematol & Oncol Clin, Perth, WA, Australia

[35] Princess Maxima Ctr Pediat Oncol, Utrecht, Netherlands

[36] Univ South Australia, UniSA Clin & Hlth Sci, Adelaide, SA, Australia

来源：

BLOOD ADVANCES | 2024年 / 8卷 / 13期

基金：

澳大利亚国家健康与医学研究理事会; 英国医学研究理事会;

关键词：

ENCODING ONCOPROTEIN EVI1; MARROW FAILURE SYNDROME; COMPLEX LOCUS MECOM; RADIOULNAR SYNOSTOSIS; MITOTIC RECOMBINATION; MOSAICISM; MUTATIONS; REVERSION;

D O I：

10.1182/bloodadvances.2023012331

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：3437 / 3443

页数：7