| 1 | CDCA7, DNMT3B, HELLS, ICF1, ICF2, ICF3, ICF4, ZBTB24
|
| CDCA7 and HELLS mutations undermine nonhomologous end joining in centromeric instability syndrome.
|
| Unoki M, Funabiki H, Velasco G, Francastel C, Sasaki H.
|
| J Clin Invest 129(1):78-92. doi: 10.1172/JCI99751. Epub 2018 Nov 19.
2019
|
| 2 | CDCA7, DNMT3B, HELLS, ICF1, ICF2, ICF3, ICF4, ZBTB24
|
| Three Types of Immunodeficiency, Centromeric Instability, and Facial Anomalies (ICF) Syndrome Identified by Whole-Exome Sequencing in Saudi Hypogammaglobulinemia Patients: Clinical, Molecular, and Cytogenetic Features.
|
| Alghamdi HA, Tashkandi SA, Alidrissi EM, Aledielah RD, AlSaidi KA, Alharbi ES, Habazi MK, Alzahrani MS.
|
| J Clin Immunol 38(8):847-853. doi: 10.1007/s10875-018-0569-9. Epub 2018 Dec 3. No abstract available.
2018
|
| 3 | CDCA7, HELLS, ICF2, ICF3, ICF4, ZBTB24
|
| Comparative methylome analysis of ICF patients identifies heterochromatin loci that require ZBTB24, CDCA7 and HELLS for their methylated state.
|
| Velasco G, Grillo G, Touleimat N, Ferry L, Ivkovic I, Ribierre F, Deleuze JF, Chantalat S, Picard C, Francastel C.
|
| Hum Mol Genet 27(14):2409-2424. doi: 10.1093/hmg/ddy130.
2018
|
| 4 | ICF2, ZBTB24
|
| Novel ZBTB24 Mutation Associated with Immunodeficiency, Centromere Instability, and Facial Anomalies Type-2 Syndrome Identified in a Patient with Very Early Onset Inflammatory Bowel Disease.
|
| Conrad MA, Dawany N, Sullivan KE, Devoto M, Kelsen JR.
|
| Inflamm Bowel Dis 23(12):2252-2255. doi: 10.1097/MIB.0000000000001280.
2017
|
| 5 | ICF2, ZBTB24
|
| Combined immunodeficiency develops with age in Immunodeficiency-centromeric instability-facial anomalies syndrome 2 (ICF2).
|
| von Bernuth H, Ravindran E, Du H, Fröhler S, Strehl K, Krämer N, Issa-Jahns L, Amulic B, Ninnemann O, Xiao MS, Eirich K, Kölsch U, Hauptmann K, John R, Schindler D, Wahn V, Chen W, Kaindl AM.
|
| Orphanet J Rare Dis 9:116. doi: 10.1186/s13023-014-0116-6.
2014
|
| 6 | ICF2, ZBTB24
|
| A novel deletion in ZBTB24 in a Lebanese family with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2.
|
| Chouery E, Abou-Ghoch J, Corbani S, El Ali N, Korban R, Salem N, Castro C, Klayme S, Azoury-Abou Rjeily M, Khoury-Matar R, Debo G, Germanos-Haddad M, Delague V, Lefranc G, Mégarbané A.
|
| Clin Genet 82(5):489-93. doi: 10.1111/j.1399-0004.2011.01783.x. Epub 2011 Oct 5.
2012
|
| 7 | ICF2, ZBTB24
|
| Mutations in ZBTB24 Are Associated with Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome Type 2.
|
| de Greef JC, Wang J, Balog J, den Dunnen JT, Frants RR, Straasheijm KR, Aytekin C, van der Burg M, Duprez L, Ferster A, Gennery AR, Gimelli G, Reisli I, Schuetz C, Schulz A, Smeets DF, Sznajer Y, Wijmenga C, van Eggermond MC, van Ostaijen-Ten Dam MM, Lankester AC, van Tol MJ, van den Elsen PJ, Weemaes CM, van der Maarel SM.
|
| Am J Hum Genet 88(6):796-804. Epub 2011 May 19.
2011
|
| 8 | ICF2, ZBTB24
|
| A novel deletion in ZBTB24 in a Lebanese family with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2.
|
| Chouery E, Abou-Ghoch J, Corbani S, El Ali N, Korban R, Salem N, Castro C, Klayme S, Azoury-Abou Rjeily M, Khoury-Matar R, Debo G, Germanos-Haddad M, Delague V, Lefranc G, Mégarbané A.
|
| Clin Genet lin Genet. 2011 Sep 9. doi: 10.1111/j.1399-0004.2011.01783.x. [Epub ahead of print]
2011
|