Drivas, Theodore G., Li, Dong, Nair, Divya, Alaimo, Joseph T., Alders, Marielle, Altmueller, Janine, Barakat, Tahsin Stefan, Bebin, E. Martina, Bertsch, Nicole L., Blackburn, Patrick R., Blesson, Alyssa, Bouman, Arjan M., Brockmann, Knut, Brunelle, Perrine, Burmeister, Margit, Cooper, Gregory M., Denecke, Jonas, Dieux-Coeslier, Anne, Dubbs, Holly, Ferrer, Alejandro, Gal, Danna, Bartik, Lauren E., Gunderson, Lauren B., Hasadsri, Linda, Jain, Mahim, Karimov, Catherine, Keena, Beth, Klee, Eric W., Kloth, Katja, Lace, Baiba ORCID: 0000-0001-5371-6756, Macchiaiolo, Marina, Marcadier, Julien L., Milunsky, Jeff M., Napier, Melanie P., Ortiz-Gonzalez, Xilma R., Pichurin, Pavel N., Pinner, Jason, Powis, Zoe, Prasad, Chitra, Radio, Francesca Clementina, Rasmussen, Kristen J., Renaud, Deborah L., Rush, Eric T., Saunders, Carol, Selcen, Duygu, Seman, Ann R., Shinde, Deepali N., Smith, Erica D., Smol, Thomas ORCID: 0000-0002-0119-5896, Blok, Lot Snijders, Stoler, Joan M., Tang, Sha, Tartaglia, Marco ORCID: 0000-0001-7736-9672, Thompson, Michelle L., van de Kamp, Jiddeke M., Wang, Jingmin, Weise, Dagmar, Weiss, Karin, Woitschach, Rixa, Wollnik, Bernd, Yan, Huifang, Zackai, Elaine H., Zampino, Giuseppe, Campeau, Philippe ORCID: 0000-0001-9713-7107 and Bhoj, Elizabeth (2020). A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome. Eur. J. Hum. Genet., 28 (10). S. 1422 - 1432. LONDON: NATURE PUBLISHING GROUP. ISSN 1476-5438

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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.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Drivas, Theodore G.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Li, DongUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Nair, DivyaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Alaimo, Joseph T.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Alders, MarielleUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Altmueller, JanineUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Barakat, Tahsin StefanUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bebin, E. MartinaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bertsch, Nicole L.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Blackburn, Patrick R.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Blesson, AlyssaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bouman, Arjan M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Brockmann, KnutUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Brunelle, PerrineUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Burmeister, MargitUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Cooper, Gregory M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Denecke, JonasUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Dieux-Coeslier, AnneUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Dubbs, HollyUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ferrer, AlejandroUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Gal, DannaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bartik, Lauren E.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Gunderson, Lauren B.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hasadsri, LindaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Jain, MahimUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Karimov, CatherineUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Keena, BethUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Klee, Eric W.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kloth, KatjaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lace, BaibaUNSPECIFIEDorcid.org/0000-0001-5371-6756UNSPECIFIED
Macchiaiolo, MarinaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Marcadier, Julien L.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Milunsky, Jeff M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Napier, Melanie P.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ortiz-Gonzalez, Xilma R.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Pichurin, Pavel N.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Pinner, JasonUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Powis, ZoeUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Prasad, ChitraUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Radio, Francesca ClementinaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Rasmussen, Kristen J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Renaud, Deborah L.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Rush, Eric T.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Saunders, CarolUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Selcen, DuyguUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Seman, Ann R.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Shinde, Deepali N.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Smith, Erica D.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Smol, ThomasUNSPECIFIEDorcid.org/0000-0002-0119-5896UNSPECIFIED
Blok, Lot SnijdersUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Stoler, Joan M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Tang, ShaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Tartaglia, MarcoUNSPECIFIEDorcid.org/0000-0001-7736-9672UNSPECIFIED
Thompson, Michelle L.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
van de Kamp, Jiddeke M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Wang, JingminUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Weise, DagmarUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Weiss, KarinUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Woitschach, RixaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Wollnik, BerndUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Yan, HuifangUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Zackai, Elaine H.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Zampino, GiuseppeUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Campeau, PhilippeUNSPECIFIEDorcid.org/0000-0001-9713-7107UNSPECIFIED
Bhoj, ElizabethUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
URN: urn:nbn:de:hbz:38-332074
DOI: 10.1038/s41431-020-0654-4
Journal or Publication Title: Eur. J. Hum. Genet.
Volume: 28
Number: 10
Page Range: S. 1422 - 1432
Date: 2020
Publisher: NATURE PUBLISHING GROUP
Place of Publication: LONDON
ISSN: 1476-5438
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
DE-NOVO MUTATIONS; FAMILY; PROTEINS; GENEMultiple languages
Biochemistry & Molecular Biology; Genetics & HeredityMultiple languages
URI: http://kups.ub.uni-koeln.de/id/eprint/33207

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