SALL4 and NFATC2: two major actors of interstitial 20q13.2 duplication.

Authors :: Briand-Suleau A
Martinovic J
Tosca L
Tou B
Brisset S
Bouligand J
Delattre V
Giurgea I
Bachir J
Folliot P
Goumy C
Francannet C
Guiochon-Mantel A
Benachi A
Vermeesch J
Tachdjian G
Vago P
Goossens M
Métay C
Source :: European journal of medical genetics [Eur J Med Genet] 2014 Mar; Vol. 57 (4), pp. 174-80. Date of Electronic Publication: 2014 Jan 29.
Publication Year :: 2014
Abstract: Interstitial duplication within the long arm of chromosome 20 is an uncommon chromosome structural abnormality. We report here the clinical and molecular characterization associated with pure 20q13.2 duplication in three unrelated patients. The most frequent clinical features were developmental delay, facial dysmorphism, cardiac malformation and skeletal anomalies. All DNA gains occurred de novo, ranging from 1.1 Mb to 11.5 Mb. Compared with previously reported conventional cytogenetic analyses, oligonucleotides array CGH allowed us to refine breakpoints and determine the genes of interest in the region. Involvement of SALL4 in cardiac malformations and NFATC2 gene disruption in both cardiac and skeletal anomalies are discussed.<br /> (Copyright © 2014 Elsevier Masson SAS. All rights reserved.)