Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Immunodeficiency-centromeric instability-facial anomalies syndrome

ICF syndrome is an autosomal recessive immunodeficiency syndrome caused by mutations of the DNMT3B gene.

Systematic

Primary immunodeficiency
Hereditary susceptibility to infections
Immunodeficiency 21
Immunodeficiency 31A
Immunodeficiency 31B
Immunodeficiency 31C
Immunodeficiency-centromeric instability-facial anomalies syndrome
DNMT3B
Wiskott–Aldrich syndrome

References:

1.

Okano M et. al. (1999) DNA methyltransferases Dnmt3a and Dnmt3b are essential for de novo methylation and mammalian development.

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2.

Wijmenga C et. al. (1998) Localization of the ICF syndrome to chromosome 20 by homozygosity mapping.

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3.

Xu GL et. al. (1999) Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene.

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4.

Wijmenga C et. al. (2000) Genetic variation in ICF syndrome: evidence for genetic heterogeneity.

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5.

Ehrlich M et. al. (2001) DNA methyltransferase 3B mutations linked to the ICF syndrome cause dysregulation of lymphogenesis genes.

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6.

Bickmore WA et. al. (2003) Perturbations of chromatin structure in human genetic disease: recent advances.

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7.

Jiang YL et. al. (2005) DNMT3B mutations and DNA methylation defect define two types of ICF syndrome.

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8.

Tiepolo L et. al. (1979) Multibranched chromosomes 1, 9, and 16 in a patient with combined IgA and IgE deficiency.

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9.

Maraschio P et. al. (1992) Interphase cytogenetics of the ICF syndrome.

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10.

Braegger C et. al. (1991) Unknown syndrome: ischiadic hypoplasia, renal dysfunction, immunodeficiency, and a pattern of minor congenital anomalies.

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11.

None (1990) Centromeric heterochromatin instability of chromosomes 1, 9, and 16 in variable immunodeficiency syndrome--a virus-induced phenomenon?

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12.

Fasth A et. al. () Fragility of the centromeric region of chromosome 1 associated with combined immunodeficiency in siblings. A recessively inherited entity?

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13.

Turleau C et. al. (1989) Multibranched chromosomes in the ICF syndrome: immunodeficiency, centromeric instability, and facial anomalies.

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14.

Maraschio P et. al. (1989) Differential expression of the ICF (immunodeficiency, centromeric heterochromatin, facial anomalies) mutation in lymphocytes and fibroblasts.

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15.

Maraschio P et. al. (1988) Immunodeficiency, centromeric heterochromatin instability of chromosomes 1, 9, and 16, and facial anomalies: the ICF syndrome.

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16.

Valkova G et. al. (1987) Centromeric instability of chromosomes 1, 9 and 16 with variable immune deficiency. Support of a new syndrome.

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17.

Howard PJ et. al. (1985) Centromeric instability of chromosomes 1 and 16 with variable immune deficiency: a new syndrome.

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18.

Fryns JP et. al. (1981) Centromeric instability of chromosomes 1, 9, and 16 associated with combined immunodeficiency.

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19.

Brown DC et. al. (1995) ICF syndrome (immunodeficiency, centromeric instability and facial anomalies): investigation of heterochromatin abnormalities and review of clinical outcome.

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20.

Stacey M et. al. (1995) FISH analysis on spontaneously arising micronuclei in the ICF syndrome.

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21.

Sawyer JR et. al. (1995) Chromosome instability in ICF syndrome: formation of micronuclei from multibranched chromosomes 1 demonstrated by fluorescence in situ hybridization.

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22.

Smeets DF et. al. (1994) ICF syndrome: a new case and review of the literature.

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23.

Jeanpierre M et. al. (1993) An embryonic-like methylation pattern of classical satellite DNA is observed in ICF syndrome.

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24.

Gimelli G et. al. (1993) ICF syndrome with variable expression in sibs.

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25.

Franceschini P et. al. (1995) Variability of clinical and immunological phenotype in immunodeficiency-centromeric instability-facial anomalies syndrome. Report of two new patients and review of the literature.

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26.

Thoraval D et. al. (1996) Demethylation of repetitive DNA sequences in neuroblastoma.

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27.

Miniou P et. al. (1997) alpha-satellite DNA methylation in normal individuals and in ICF patients: heterogeneous methylation of constitutive heterochromatin in adult and fetal tissues.

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28.

Sumner AT et. al. (1998) A FISH study of chromosome fusion in the ICF syndrome: involvement of paracentric heterochromatin but not of the centromeres themselves.

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29.

Kondo T et. al. (2000) Whole-genome methylation scan in ICF syndrome: hypomethylation of non-satellite DNA repeats D4Z4 and NBL2.

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30.

Hansen RS et. al. (2000) Escape from gene silencing in ICF syndrome: evidence for advanced replication time as a major determinant.

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31.

Hendrich B et. al. (2001) Human diseases with underlying defects in chromatin structure and modification.

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32.

De Ravel TJ et. al. (2001) The ICF syndrome: new case and update.

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33.

Tao Q et. al. (2002) Defective de novo methylation of viral and cellular DNA sequences in ICF syndrome cells.

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34.

Kubota T et. al. (2004) ICF syndrome in a girl with DNA hypomethylation but without detectable DNMT3B mutation.

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35.

Kloeckener-Gruissem B et. al. (2005) A new and a reclassified ICF patient without mutations in DNMT3B and its interacting proteins SUMO-1 and UBC9.

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36.

Schuetz C et. al. (2007) ICF syndrome: high variability of the chromosomal phenotype and association with classical Hodgkin lymphoma.

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37.

Hagleitner MM et. al. (2008) Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome).

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38.

Jin B et. al. (2008) DNA methyltransferase 3B (DNMT3B) mutations in ICF syndrome lead to altered epigenetic modifications and aberrant expression of genes regulating development, neurogenesis and immune function.

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39.

Weemaes CM et. al. (2013) Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects.

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40.

Thijssen PE et. al. (2015) Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome.

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Update: Sept. 26, 2018