A novel deletion in ZBTB24 in a Lebanese family with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2

Clinical Genetics

Volumn 82, Issue 5, 2012, Pages 489-493

  Chouery, E ^a   Abou Ghoch, J ^a   Corbani, S ^a   El Ali, N ^a   Korban, R ^a   Salem, N ^a   Castro, C ^b   Klayme, S ^c   Azoury Abou Rjeily, M ^c   Khoury Matar, R ^c   Debo, G ^c   Germanos Haddad, M ^c   Delague, V ^b   Lefranc, G ^d   Megarbane A ^a,e  

^a SAINT JOSEPH UNIVERSITY   (Lebanon)

^b AIX MARSEILLE UNIVERSITY   (France)

^c SAINT JOSEPH UNIVERSITY   (Lebanon)

^d INSTITUTE OF HUMAN GENETICS   (France)

^e Institute Jérôme Lejeune   (France)

Author keywords

Alpha satellites; Classical satellites; DNA methylation; DNMT3B; Genetic heterogeneity; Heterochromatin; ICF syndrome; ZBTB24

Indexed keywords

DNA METHYLTRANSFERASE 3B; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR ZBTB24; UNCLASSIFIED DRUG;

ADOLESCENT; ARTICLE; CASE REPORT; CHILD; CHROMOSOMAL INSTABILITY; CHROMOSOME ANALYSIS; CHROMOSOME BREAKAGE; CLINICAL ASSESSMENT; DEVELOPMENTAL DISORDER; FACE MALFORMATION; FAMILY STUDY; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC HETEROGENEITY; HETEROCHROMATIN; HUMAN; IMMUNE DEFICIENCY; IMMUNODEFICIENCY CENTROMERIC INSTABILITY WITH FACIAL ANOMALY; IMMUNOGLOBULIN BLOOD LEVEL; LEBANON; LOSS OF FUNCTION MUTATION; MALE; METHYLATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; CHILD; CHILD, PRESCHOOL; CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN; DNA (CYTOSINE-5-)-METHYLTRANSFERASE; DNA METHYLATION; DNA MUTATIONAL ANALYSIS; FACE; FEMALE; GENE DELETION; GENETIC TESTING; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; LEBANON; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; REPRESSOR PROTEINS;

EID: 84867592763     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2011.01783.x     Document Type: Article

References (12)

1. Hagleitner MM, Lankester A, Maraschio P et al. Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome). J Med Genet 2008: 45 (2): 93-99.
2. Jefferson A, Colella S, Moralli D et al. Altered intra-nuclear organisation of heterochromatin and genes in ICF syndrome. PLoS One 2010: 5 (6): e11364.
3. Ehrlich M, Jackson K, Weemaes C. Immunodeficiency, centromeric region instability, facial anomalies syndrome (ICF). Orphanet J Rare Dis 2006: 1: 2.
4. Ehrlich M, Sanchez C, Shao C et al. ICF, an immunodeficiency syndrome: DNA methyltransferase 3B involvement, chromosome anomalies, and gene dysregulation. Autoimmunity 2008: 41 (4): 253-271.
5. Brun ME, Lana E, Rivals I et al. Heterochromatic genes undergo epigenetic changes and escape silencing in immunodeficiency, centromeric instability, facial anomalies (ICF) syndrome. PLoS One 2011: 6 (4): e19464.
6. Xu GL, Bestor TH, Bourc'his D et al. Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene. Nature 1999: 402 (6758): 187-191.
7. De Greef JC, Wang J, Balog J et al. Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2. Am J Hum Genet 2011: 88 (6): 796-804.
8. Grimberg J, Nawoschik S, Belluscio L, McKee R, Turck A, Eisenberg A. A simple and efficient non-organic procedure for the isolation of genomic DNA from blood. Nucleic Acids Res 1989: 17: 8390.
9. Jiang YL, Rigolet M, Bourc'his D et al. DNMT3B mutations and DNA methylation defect define two types of ICF syndrome. Hum Mutat 2005: 25 (1): 56-63.
10. Wijmenga C, Hansen RS, Gimelli G et al. Genetic variation in ICF syndrome: evidence for genetic heterogeneity. Hum Mutat 2000: 16: 509-517.
11. Edgar AJ, Dover SL, Lodrick MN, McKay IJ, Hughes FJ, Turner W. Bone morphogenetic protein-2 induces expression of murine zinc finger transcription factor ZNF450. J Cell Biochem 2005: 94 (1): 202-215.
12. Cheng H, Jiang W, Phillips FM et al. Osteogenic activity of the fourteen types of human bone morphogenetic proteins (BMPs). J Bone Joint Surg Am 2003: 85-A (8): 1544-1552.