Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Syndrom der zentromeren Instabilität mit Immundefizienz und Gesichtsfehlbildungen

Das ICF-Syndrom ist eine autosomal rezessive Immundeffizienz, die durch Mutationen im DNMT3B-Gen hervorgerufen wird.

Gliederung

Primärer Immundefekt
Erbliche Infektionsanfälligkeiten
Immundefekt 21
Immundefekt 31A
Immundefekt 31B
Immundefekt 31C
Syndrom der zentromeren Instabilität mit Immundefizienz und Gesichtsfehlbildungen
DNMT3B
Wiskott-Aldrich-Syndrom

Referenzen:

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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