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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
A novel deletion in ZBTB24 in a Lebanese family with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2
Clinical Genetics, Volume 82, No. 5, Year 2012
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Description
The immunodeficiency, centromeric instability and facial anomalies (ICF) syndrome is a rare autosomal recessive disease characterized by targeted chromosome breakage, directly related to a genomic methylation defect. It manifests with phenotypic and clinical variability, with the most consistent features being developmental delay, facial anomalies, cytogenetic defects and immunodeficiency with a reduction in serum immunoglobulin levels. From the molecular point of view, ICF syndrome was always divided into ICF type I (ICF1) and ICF type 2 (ICF2). Mutations in DNMT3B gene are responsible for ICF1, while mutations in ZBTB24 have been reported to be responsible for ICF2. In this study, we describe a Lebanese family with three ICF2 affected brothers. Sanger sequencing of the coding sequence of ZBTB24 gene was conducted and revealed a novel deletion: c.396_397delTA (p.His132Glnfs*19), resulting in a loss-of-function of the corresponding protein. ZBTB24 belongs to a large family of transcriptional factors and may be involved in DNA methylation of juxtacentromeric DNA. Detailed molecular and functional studies of the ZBTB24 and DNMT3B genes are needed to understand the pathophysiology of ICF syndrome. © 2011 John Wiley & Sons A/S.
Authors & Co-Authors
Chouery, Éliane
Lebanon, Beirut
Université Saint-joseph de Beyrouth
Abou-Ghoch, Joelle
Lebanon, Beirut
Université Saint-joseph de Beyrouth
Corbani, Sandra
Lebanon, Beirut
Université Saint-joseph de Beyrouth
El Ali, N.
Lebanon, Beirut
Université Saint-joseph de Beyrouth
Korban, R.
Lebanon, Beirut
Université Saint-joseph de Beyrouth
Salem, Nabiha
Lebanon, Beirut
Université Saint-joseph de Beyrouth
Castro, Christel
France, Marseille
Aix Marseille Université
Klayme, S.
Lebanon, Beirut
Hôtel-dieu de France Hospital
Azoury-Abou Rjeily, M.
Lebanon, Beirut
Hôtel-dieu de France Hospital
Khoury-Matar, R.
Lebanon, Beirut
Hôtel-dieu de France Hospital
Debo, G.
Lebanon, Beirut
Hôtel-dieu de France Hospital
Germanos-Haddad, M.
Lebanon, Beirut
Hôtel-dieu de France Hospital
Delague, Valeŕie
France, Marseille
Aix Marseille Université
Lefranc, Gérard
France, Montpellier
Igh Institut de Génétique Humaine
Megarbane, Andre
Lebanon, Beirut
Université Saint-joseph de Beyrouth
France, Paris
Institut Jérôme Lejeune
Statistics
Citations: 46
Authors: 15
Affiliations: 5
Identifiers
Doi:
10.1111/j.1399-0004.2011.01783.x
ISSN:
00099163
e-ISSN:
13990004
Research Areas
Genetics And Genomics