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; Joan M. Stoler; Sha Tang; Marco Tartaglia; Michelle L. Thompson; Jiddeke M. van de Kamp; Jingmin Wang; Dagmar Weise; Karin Weiss; Rixa Woitschach; Bernd Wollnik; Huifang Yan; Elaine H. Zackai; Giuseppe Zampino; Philippe Campeau; Elizabeth Bhoj

doi:10.1038/s41431-020-0654-4

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 FerrerDanna 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, Joan M. Stoler, Sha Tang, Marco Tartaglia, Michelle L. Thompson, Jiddeke M. van de Kamp, Jingmin Wang, Dagmar Weise, Karin Weiss, Rixa Woitschach, Bernd Wollnik, Huifang Yan, Elaine H. Zackai, Giuseppe Zampino, Philippe Campeau, Elizabeth Bhoj

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Abstract

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.

Original language	English (US)
Pages (from-to)	1422-1431
Number of pages	10
Journal	European Journal of Human Genetics
Volume	28
Issue number	10
DOIs	https://doi.org/10.1038/s41431-020-0654-4
State	Published - Oct 1 2020

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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Drivas, T. G., Li, D., Nair, D., Alaimo, J. T., Alders, M., Altmüller, J., Barakat, T. S., Bebin, E. M., Bertsch, N. L., Blackburn, P. R., Blesson, A., Bouman, A. M., Brockmann, K., Brunelle, P., Burmeister, M., Cooper, G. M., Denecke, J., Dieux-Coëslier, A., Dubbs, H., ... Bhoj, E. (2020). A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome. European Journal of Human Genetics, 28(10), 1422-1431. https://doi.org/10.1038/s41431-020-0654-4

Drivas, TG, Li, D, Nair, D, Alaimo, JT, Alders, M, Altmüller, J, Barakat, TS, Bebin, EM, Bertsch, NL, Blackburn, PR, Blesson, A, Bouman, AM, Brockmann, K, Brunelle, P, Burmeister, M, Cooper, GM, Denecke, J, Dieux-Coëslier, A, Dubbs, H, Ferrer, A, Gal, D, Bartik, LE, Gunderson, LB, Hasadsri, L, Jain, M, Karimov, C, Keena, B, Klee, EW, Kloth, K, Lace, B, Macchiaiolo, M, Marcadier, JL, Milunsky, JM, Napier, MP, Ortiz-Gonzalez, XR, Pichurin, PN, Pinner, J, Powis, Z, Prasad, C, Radio, FC, Rasmussen, KJ, Renaud, DL, Rush, ET, Saunders, C, Selcen, D, Seman, AR, Shinde, DN, Smith, ED, Smol, T, Snijders Blok, L, Stoler, JM, Tang, S, Tartaglia, M, Thompson, ML, van de Kamp, JM, Wang, J, Weise, D, Weiss, K, Woitschach, R, Wollnik, B, Yan, H, Zackai, EH, Zampino, G, Campeau, P & Bhoj, E 2020, 'A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome', European Journal of Human Genetics, vol. 28, no. 10, pp. 1422-1431. https://doi.org/10.1038/s41431-020-0654-4

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

abstract = "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.",

author = "Drivas, {Theodore G.} and Dong Li and Divya Nair and Alaimo, {Joseph T.} and Mari{\"e}lle Alders and Janine Altm{\"u}ller and Barakat, {Tahsin Stefan} and Bebin, {E. Martina} and Bertsch, {Nicole L.} and Blackburn, {Patrick R.} and Alyssa Blesson and Bouman, {Arjan M.} and Knut Brockmann and Perrine Brunelle and Margit Burmeister and Cooper, {Gregory M.} and Jonas Denecke and Anne Dieux-Co{\"e}slier and Holly Dubbs and Alejandro Ferrer and Danna Gal and Bartik, {Lauren E.} and Gunderson, {Lauren B.} and Linda Hasadsri and Mahim Jain and Catherine Karimov and Beth Keena and Klee, {Eric W.} and Katja Kloth and Baiba Lace and Marina Macchiaiolo and Marcadier, {Julien L.} and Milunsky, {Jeff M.} and Napier, {Melanie P.} and Ortiz-Gonzalez, {Xilma R.} and Pichurin, {Pavel N.} and Jason Pinner and Zoe Powis and Chitra Prasad and Radio, {Francesca Clementina} and Rasmussen, {Kristen J.} and Renaud, {Deborah L.} and Rush, {Eric T.} and Carol Saunders and Duygu Selcen and Seman, {Ann R.} and Shinde, {Deepali N.} and Smith, {Erica D.} and Thomas Smol and {Snijders Blok}, Lot and Stoler, {Joan M.} and Sha Tang and Marco Tartaglia and Thompson, {Michelle L.} and {van de Kamp}, {Jiddeke M.} and Jingmin Wang and Dagmar Weise and Karin Weiss and Rixa Woitschach and Bernd Wollnik and Huifang Yan and Zackai, {Elaine H.} and Giuseppe Zampino and Philippe Campeau and Elizabeth Bhoj",

note = "Publisher Copyright: {\textcopyright} 2020, The Author(s), under exclusive licence to European Society of Human Genetics.",

year = "2020",

month = oct,

day = "1",

doi = "10.1038/s41431-020-0654-4",

language = "English (US)",

volume = "28",

pages = "1422--1431",

journal = "European Journal of Human Genetics",

issn = "1018-4813",

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TY - JOUR

T1 - A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome

AU - Drivas, Theodore G.

AU - Li, Dong

AU - Nair, Divya

AU - Alaimo, Joseph T.

AU - Alders, Mariëlle

AU - Altmüller, Janine

AU - Barakat, Tahsin Stefan

AU - Bebin, E. Martina

AU - Bertsch, Nicole L.

AU - Blackburn, Patrick R.

AU - Blesson, Alyssa

AU - Bouman, Arjan M.

AU - Brockmann, Knut

AU - Brunelle, Perrine

AU - Burmeister, Margit

AU - Cooper, Gregory M.

AU - Denecke, Jonas

AU - Dieux-Coëslier, Anne

AU - Dubbs, Holly

AU - Ferrer, Alejandro

AU - Gal, Danna

AU - Bartik, Lauren E.

AU - Gunderson, Lauren B.

AU - Hasadsri, Linda

AU - Jain, Mahim

AU - Karimov, Catherine

AU - Keena, Beth

AU - Klee, Eric W.

AU - Kloth, Katja

AU - Lace, Baiba

AU - Macchiaiolo, Marina

AU - Marcadier, Julien L.

AU - Milunsky, Jeff M.

AU - Napier, Melanie P.

AU - Ortiz-Gonzalez, Xilma R.

AU - Pichurin, Pavel N.

AU - Pinner, Jason

AU - Powis, Zoe

AU - Prasad, Chitra

AU - Radio, Francesca Clementina

AU - Rasmussen, Kristen J.

AU - Renaud, Deborah L.

AU - Rush, Eric T.

AU - Saunders, Carol

AU - Selcen, Duygu

AU - Seman, Ann R.

AU - Shinde, Deepali N.

AU - Smith, Erica D.

AU - Smol, Thomas

AU - Snijders Blok, Lot

AU - Stoler, Joan M.

AU - Tang, Sha

AU - Tartaglia, Marco

AU - Thompson, Michelle L.

AU - van de Kamp, Jiddeke M.

AU - Wang, Jingmin

AU - Weise, Dagmar

AU - Weiss, Karin

AU - Woitschach, Rixa

AU - Wollnik, Bernd

AU - Yan, Huifang

AU - Zackai, Elaine H.

AU - Zampino, Giuseppe

AU - Campeau, Philippe

AU - Bhoj, Elizabeth

PY - 2020/10/1

Y1 - 2020/10/1

N2 - 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.

AB - 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.

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U2 - 10.1038/s41431-020-0654-4

DO - 10.1038/s41431-020-0654-4

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AN - SCOPUS:85085881820

SN - 1018-4813

VL - 28

SP - 1422

EP - 1431

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

IS - 10

ER -

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

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