Description:
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME
APPARENTLY HEALTHY INDIVIDUAL
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Chromosome Abnormalities |
| Class |
Syndromes with Increased Chromosome Breakage |
| Alternate IDs |
GM17282 [IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME] |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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White
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Family Member
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3
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Relation to Proband
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father
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis and by Chromosome Analysis |
| |
| Remarks |
Clinically normal; normal 46,XY karyotype |
| Toubiana S1, Velasco G2, Chityat A1, Kaindl AM3, Hershtig N4, Tzur-Gilat A1, Francastel C2, Selig S1., Subtelomeric methylation distinguishes between subtypes of Immunodeficiency, Centromeric Instability and Facial Anomalies (ICF) syndrome Human Molecular Genetics: 2018 |
| PubMed ID: 30010917 |
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| Yehezkel S, Segev Y, Viegas-Péquignot E, Skorecki K, Selig S, Hypomethylation of subtelomeric regions in ICF syndrome is associated with abnormally short telomeres and enhanced transcription from telomeric regions Human molecular genetics: 2008 |
| PubMed ID: 18558631 |
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| Jin B, Tao Q, Peng J, Soo HM, Wu W, Ying J, Fields CR, Delmas AL, Liu X, Qiu J, Robertson KD, DNA methyltransferase 3B (DNMT3B) mutations in ICF syndrome lead to altered epigenetic modifications and aberrant expression of genes regulating development, neurogenesis and immune function Human molecular genetics17:690-709 2007 |
| PubMed ID: 18029387 |
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| Roizès G, Human centromeric alphoid domains are periodically homogenized so that they vary substantially between homologues Mechanism and implications for centromere functioning Nucleic acids research34:1912-24 2006 |
| PubMed ID: 16598075 |
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| Small KM, Brown KM, Seman CA, Theiss CT, Liggett SB, Complex haplotypes derived from noncoding polymorphisms of the intronless alpha2A-adrenergic gene diversify receptor expression Proceedings of the National Academy of Sciences of the United States of America103:5472-7 2006 |
| PubMed ID: 16567612 |
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| Sha MY, Walton ID, Norton SM, Taylor M, Yamanaka M, Natan MJ, Xu C, Drmanac S, Huang S, Borcherding A, Drmanac R, Penn SG, Multiplexed SNP genotyping using nanobarcode particle technology Analytical and bioanalytical chemistry384:658-66 2005 |
| PubMed ID: 16421712 |
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| Narayan A, Tuck-Muller C, Weissbecker K, Smeets D, Ehrlich M, Hypersensitivity to radiation-induced non-apoptotic and apoptotic death in cell lines from patients with the ICF chromosome instability syndrome Mutation research456:1-15 2000 |
| PubMed ID: 11087891 |
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| Tuck-Muller CM, Narayan A, Tsien F, Smeets DF, Sawyer J, Fiala ES, Sohn OS, Ehrlich M, DNA hypomethylation and unusual chromosome instability in cell lines from ICF syndrome patients Cytogenetics and cell genetics89:121-8 2000 |
| PubMed ID: 10894953 |
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| Hansen RS, Wijmenga C, Luo P, Stanek AM, Canfield TK, Weemaes CM, Gartler SM, The DNMT3B DNA methyltransferase gene is mutated in the ICF immunodeficiency syndrome. Proc Natl Acad Sci U S A96:14412-7 1999 |
| PubMed ID: 10588719 |
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| Okano M, Bell DW, Haber DA, Li E, DNA methyltransferases Dnmt3a and Dnmt3b are essential for de novo methylation and mammalian development. Cell99(3):247-57 1999 |
| PubMed ID: 10555141 |
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