A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome

被引：25

作者：

Drivas, Theodore G. ^{[1
]}

Li, Dong ^{[1
]}

Nair, Divya ^{[1
]}

Alaimo, Joseph T. ^{[2
,3
]}

Alders, Marielle ^{[4
]}

Altmueller, Janine ^{[5
]}

Barakat, Tahsin Stefan ^{[6
]}

Bebin, E. Martina ^{[7
]}

Bertsch, Nicole L. ^{[8
]}

Blackburn, Patrick R. ^{[9
]}

Blesson, Alyssa ^{[10
]}

Bouman, Arjan M. ^{[6
]}

Brockmann, Knut ^{[11
]}

Brunelle, Perrine ^{[12
,13
]}

Burmeister, Margit ^{[14
,15
,16
,17
]}

Cooper, Gregory M. ^{[18
]}

Denecke, Jonas ^{[19
]}

Dieux-Coeslier, Anne ^{[12
,13
]}

Dubbs, Holly ^{[20
]}

Ferrer, Alejandro ^{[21
]}

Gal, Danna ^{[22
]}

Bartik, Lauren E. ^{[2
,23
]}

Gunderson, Lauren B. ^{[8
]}

Hasadsri, Linda ^{[9
]}

Jain, Mahim ^{[10
]}

Karimov, Catherine ^{[24
]}

Keena, Beth ^{[1
]}

Klee, Eric W. ^{[21
]}

Kloth, Katja ^{[25
]}

Lace, Baiba ^{[26
]}

Macchiaiolo, Marina ^{[27
]}

Marcadier, Julien L. ^{[28
]}

Milunsky, Jeff M. ^{[29
]}

Napier, Melanie P. ^{[30
,31
]}

Ortiz-Gonzalez, Xilma R. ^{[20
,32
]}

Pichurin, Pavel N. ^{[8
]}

Pinner, Jason ^{[33
]}

Powis, Zoe ^{[34
]}

Prasad, Chitra ^{[30
,31
]}

Radio, Francesca Clementina ^{[27
]}

Rasmussen, Kristen J. ^{[9
]}

Renaud, Deborah L. ^{[8
]}

Rush, Eric T. ^{[2
,23
,35
]}

Saunders, Carol ^{[2
,3
,23
]}

Selcen, Duygu ^{[36
]}

Seman, Ann R. ^{[37
]}

Shinde, Deepali N. ^{[34
]}

Smith, Erica D. ^{[34
]}

Smol, Thomas ^{[12
,13
]}

Blok, Lot Snijders ^{[38
,39
]}

机构：

[1] Childrens Hosp Philadelphia, Philadelphia, PA 19104 USA

[2] Univ Missouri, Sch Med, Kansas City, MO 64108 USA

[3] Childrens Mercy Hosp, Dept Pathol & Lab Med, Kansas City, MO 64108 USA

[4] Univ Amsterdam, Dept Clin Genet, Amsterdam UMC, Amsterdam, Netherlands

[5] Univ Cologne, Cologne Ctr Genom, Cologne, Germany

[6] Erasmus MC, Dept Clin Genet, Univ Med Ctr, Rotterdam, Netherlands

[7] Univ Alabama Birmingham, Birmingham, AL USA

[8] Mayo Clin, Dept Clin Genom, Rochester, MN 55905 USA

[9] Mayo Clin, Dept Lab Med & Pathol, Rochester, MN 55905 USA

[10] Kennedy Krieger Inst, Dept Bone & Osteogenesis Imperfecta, Baltimore, MD 21205 USA

[11] Univ Med Ctr Gottingen, Pediat & Pediat Neurol, Gottingen, Germany

[12] Univ Lille, EA RADEME Malad RAres DEv Embryonnaire & MEtab 73, F-59000 Lille, France

[13] CHU Lille, Inst Genet Med, F-59000 Lille, France

[14] Univ Michigan, Michigan Neurosci Inst, Ann Arbor, MI 48109 USA

[15] Univ Michigan, Dept Computat Med & Bioinformat, Ann Arbor, MI 48109 USA

[16] Univ Michigan, Dept Psychiat, Ann Arbor, MI 48109 USA

[17] Univ Michigan, Dept Human Genet, Ann Arbor, MI 48109 USA

[18] HudsonAlpha Inst Biotechnol, Huntsville, AL 35806 USA

[19] Univ Med Ctr Hamburg, Dept Pediat, Eppendorf, Germany

[20] Childrens Hosp Philadelphia, Dept Pediat, Div Neurol, Philadelphia, PA 19104 USA

[21] Mayo Clin, Ctr Individualized Med, Rochester, MN USA

[22] Technion Israel Inst Technol, Ruth & Bruce Rappaport Fac Med, IL-3525433 Haifa, Israel

[23] Childrens Mercy Hosp, Dept Pediat, Div Clin Genet, Kansas City, MO 64108 USA

[24] Univ Southern Calif, Childrens Hosp Los Angeles, Dept Med Genet, Keck Sch Med, Los Angeles, CA 90027 USA

[25] Univ Med Ctr Hamburg, Inst Human Genet, Eppendorf, Germany

[26] CHUQ CHUL, Clin Geneticist Med Genet Dept, Quebec City, PQ, Canada

[27] Osped Pediat Bambino Gesu, Genet & Rare Dis Res Div, IRCCS, I-00146 Rome, Italy

[28] Alberta Childrens Prov Gen Hosp, Div Med Genet, Calgary, AB, Canada

[29] Ctr Human Genet, Cambridge, MA USA

[30] London Hlth Sci Ctr, Dept Pediat, London, ON, Canada

[31] Western Univ, London, ON, Canada

[32] Univ Penn, Dept Neurol, Pereleman Sch Med, Philadelphia, PA 19104 USA

[33] Sydney Childrens Hosp, Ctr Clin Genet, Sydney, NSW, Australia

[34] Ambry Genet, Aliso Viejo, CA USA

[35] Univ Kansas, Med Ctr, Dept Internal Med, Div Endocrinol Metab Osteoporosis & Genet, Kansas City, KS 66103 USA

[36] Mayo Clin, Dept Neurol, Rochester, MN 55905 USA

[37] Boston Childrens Hosp, Dept Med, Div Genet & Genom, Boston, MA USA

[38] Radboud Univ Nijmegen, Human Genet Dept, Med Ctr, Nijmegen, Netherlands

[39] Max Planck Inst Psycholinguist, Language & Genet Dept, Nijmegen, Netherlands

[40] Vrije Univ Amsterdam, Dept Clin Genet, Amsterdam UMC, Amsterdam, Netherlands

[41] Peking Univ, Dept Pediat, Hosp 1, Beijing, Peoples R China

[42] Peking Univ, Key Lab Neurosci, Minist Educ, Natl Hlth & Family Planning Commiss, Beijing, Peoples R China

[43] Rambam Hlth Care Campus, Genet Inst, IL-3109601 Haifa, Israel

[44] Univ Med Ctr Gottingen, Inst Human Genet, Gottingen, Germany

[45] Univ Gottingen, Cluster Excellence Multiscale Bioimaging Mol Mach, D-37073 Gottingen, Germany

[46] Univ Cattolica Sacro Cuore, Fdn Policlin Univ A Gemelli, Ctr Rare Dis & Congenital Defects, IRCCS, I-00168 Rome, Italy

[47] Univ Montreal, Dept Pediat, Med Genet Div, Montreal, PQ, Canada

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2020年 / 28卷 / 10期

关键词：

DE-NOVO MUTATIONS; FAMILY; PROTEINS; GENE;

D O I：

10.1038/s41431-020-0654-4

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

There has been one previous report of a cohort of patients with variants in Chromodomain Helicase DNA-binding 3 (CHD3), now recognized as Snijders Blok-Campeau syndrome. However, with only three previously-reported patients with variants outside the ATPase/helicase domain, it was unclear if variants outside of this domain caused a clinically similar phenotype. We have analyzed 24 new patients with CHD3 variants, including nine outside the ATPase/helicase domain. All patients were detected with unbiased molecular genetic methods. There is not a significant difference in the clinical or facial features of patients with variants in or outside this domain. These additional patients further expand the clinical and molecular data associated with CHD3 variants. Importantly we conclude that there is not a significant difference in the phenotypic features of patients with various molecular disruptions, including whole gene deletions and duplications, and missense variants outside the ATPase/helicase domain. This data will aid both clinical geneticists and molecular geneticists in the diagnosis of this emerging syndrome.

引用

页码：1422 / 1431

页数：10

共 13 条

[1] A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome
Theodore G. Drivas
Dong Li
Divya Nair
Joseph T. Alaimo
Mariëlle Alders
Janine Altmüller
Tahsin Stefan Barakat
E. Martina Bebin
Nicole L. Bertsch
Patrick R. Blackburn
Alyssa Blesson
Arjan M. Bouman
Knut Brockmann
Perrine Brunelle
Margit Burmeister
Gregory M. Cooper
Jonas Denecke
Anne Dieux-Coëslier
Holly Dubbs
Alejandro Ferrer
Danna Gal
Lauren E. Bartik
Lauren B. Gunderson
Linda Hasadsri
Mahim Jain
Catherine Karimov
Beth Keena
Eric W. Klee
Katja Kloth
Baiba Lace
Marina Macchiaiolo
Julien L. Marcadier
Jeff M. Milunsky
Melanie P. Napier
Xilma R. Ortiz-Gonzalez
Pavel N. Pichurin
Jason Pinner
Zoe Powis
Chitra Prasad
Francesca Clementina Radio
Kristen J. Rasmussen
Deborah L. Renaud
Eric T. Rush
Carol Saunders
Duygu Selcen
Ann R. Seman
Deepali N. Shinde
Erica D. Smith
Thomas Smol
Lot Snijders Blok
European Journal of Human Genetics, 2020, 28 : 1422 - 1431
[2] Novel genotypes and phenotypes in Snijders Blok-Campeau syndrome caused by CHD3 mutations
Gao, Yuanyuan
Wang, Pei
Chen, Mengying
Pang, Kexin
Sun, Yifan
Zheng, Bixia
Li, Taisong
Zhang, Hongmei
Zhu, Min
FRONTIERS IN GENETICS, 2024, 15
[3] Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome
van der Spek, Jet
den Hoed, Joery
Blok, Lot Snijders
Dingemans, Alexander J. M.
Schijven, Dick
Nellaker, Christoffer
Venselaar, Hanka
Astuti, Galuh D. N.
Barakat, Tahsin Stefan
Bebin, E. Martina
Beck-Wodl, Stefanie
Beunders, Gea
Brown, Natasha J.
Brunet, Theresa
Brunner, Han G.
Campeau, Philippe M.
Cuturilo, Goran
Gilissen, Christian
Haack, Tobias B.
Huning, Irina
Husain, Ralf A.
Kamien, Benjamin
Lim, Sze Chern
Lovrecic, Luca
Magg, Janine
Maver, Ales
Miranda, Valancy
Monteil, Danielle C.
Ockeloen, Charlotte W.
Pais, Lynn S.
Plaiasu, Vasilica
Raiti, Laura
Richmond, Christopher
Riess, Angelika
Schwaibold, Eva M. C.
Simon, Marleen E. H.
Spranger, Stephanie
Tan, Tiong Yang
Thompson, Michelle L.
de Vries, Bert B. A.
Wilkins, Ella J.
Willemsen, Marjolein H.
Francks, Clyde
Vissers, Lisenka E. L. M.
Fisher, Simon E.
Kleefstra, Tjitske
GENETICS IN MEDICINE, 2022, 24 (06) : 1283 - 1296
[4] Inherited variants in CHD3 demonstrate variable expressivity in Snijders Blok-Campeau syndrome
van der Spek, Jet
den Hoed, Joery
Blok, Lot Snijders
Dingemans, Alexander J. M.
Schijven, Dick
Bebin, E. Martina
Beck-Woedl, Stefanie
Beunders, Gea
Brown, Natasha
Brugger, Melanie
Brunet, Theresa
Campeau, Philippe M.
Cuturilo, Goran
Haack, Tobias B.
Huening, Irina
Husain, Ralf A.
Kamien, Benjamin
Lill, Christina M.
Magg, Janine
Maver, Ales
Monteil, Danielle C.
Ockeloen, Charlotte W.
Richmond, Christopher
Schwaibold, Eva M. C.
Simon, Marleen E. H.
Spranger, Steffi
Tan, Tiong
Thompson, Michelle L.
Wilkins, Ella
Willemsen, Marjolein H.
Vissers, Lisenka E. L. M.
Fisher, Simon E.
Kleefstra, Tjitske
EUROPEAN JOURNAL OF HUMAN GENETICS, 2022, 30 (SUPPL 1) : 234 - 234
[5] Snijders Blok-Campeau Syndrome: Description of 20 Additional Individuals with Variants in CHD3 and Literature Review
Pascual, Patricia
Tenorio-Castano, Jair
Mignot, Cyril
Afenjar, Alexandra
Arias, Pedro
Gallego-Zazo, Natalia
Parra, Alejandro
Miranda, Lucia
Cazalla, Mario
Silvan, Cristina
Heron, Delphine
Keren, Boris
Popa, Ioana
Palomares, Maria
Rikeros, Emi
Ramos, Feliciano J.
Almoguera, Berta
Ayuso, Carmen
Swafiri, Saoud Tahsin
Barbero, Ana Isabel Sanchez
Srinivasan, Varunvenkat M.
Gowda, Vykuntaraju K.
Morleo, Manuela
Nigro, Vicenzo
D'Arrigo, Stefano
Ciaccio, Claudia
Mesa, Carmen Martin
Paumard, Beatriz
Guillen, Gema
Anton, Ana Teresa Serrano
Jimenez, Marta Dominguez
Seidel, Veronica
Suarez, Julia
Cormier-Daire, Valerie
Nevado, Julian
Lapunzina, Pablo
GENES, 2023, 14 (09)
[6] A novel CHD3 variant in a patient with central precocious puberty: Expanded phenotype of Snijders Blok-Campeau syndrome?
LeBreton, Laure
Allain, Eric P.
Parscan, Radu Christian
Crapoulet, Nicolas
Almaghraby, Abdullah
Ben Amor, Mouna
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2023, 191 (04) : 1065 - 1069
[7] Two families with inherited protein truncating CHD3 variants suggest reduced penetrance in Snijders Blok-Campeau syndrome
van der Spek, J.
den Hoed, J.
Blok, L. Snijders
Ockeloen, C. W.
Simon, M. E. H.
Vissers, L. E. L. M.
Fisher, S. E.
Kleefstra, T.
EUROPEAN JOURNAL OF HUMAN GENETICS, 2020, 28 (SUPPL 1) : 872 - 873
[8] Expanded phenotype of Snijders Blok-Campeau syndrome related to CHD3 pathogenic variant with precocious puberty and pituitary microadenoma
Parascan, Radu
Allain, Eric
Robichaud, Philippe Pierre
Mouna, Ben Amor
EUROPEAN JOURNAL OF HUMAN GENETICS, 2023, 31 : 495 - 496
[9] Insights From a Novel Splicing Variant and Recurrent Arginine Variants in the CHD3 Gene Causing Snijders Blok-Campeau Syndrome
Tie, Xiaoling
Che, Fengyu
Liu, Siting
Mo, Lidangzhi
Zhang, Liyu
Li, Benchang
Yang, Ying
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2025, 197 (03)
[10] CHD3-related Snijders Blok-Campeau syndrome with Spastic Paraplegia, Ataxia, and Situs Inversus
Chen, Lin
Bu, Yanjiao
Yu, Yuwen
Chen, Yongxing
Lei, Xiaoguang
EUROPEAN JOURNAL OF MEDICAL GENETICS, 2025, 73

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