scholarly journals ICF syndrome

2020 ◽  
Author(s):  
Keyword(s):  
Icf Syndrome

Prolonged culture of normal chorionic villus cells yields ICF syndrome-like chromatin decondensation and rearrangements

2002 ◽  
Vol 98 (1) ◽  
pp. 13-21 ◽  
Author(s):  
F. Tsien ◽  
E.S. Fiala ◽  
B. Youn ◽  
T.I. Long ◽  
P.W. Laird ◽  
...  
Keyword(s):  
Chorionic Villus ◽  
Chromatin Decondensation ◽  
Icf Syndrome ◽  
Prolonged Culture

scholarly journals Immunodeficiency, centromeric heterochromatin instability of chromosomes 1, 9, and 16, and facial anomalies: the ICF syndrome

2017 ◽  
Vol 4 (4) ◽  
pp. 1545
Author(s):  
Shailesh Pande ◽  
Mani Bhushan ◽  
Anurita Pais ◽  
Gauri Pradhan ◽  
Chaitali Kadam ◽  
...  
Keyword(s):  
Chromosomal Instability ◽  
Immune Status ◽  
Centromeric Region ◽  
Fragile Sites ◽  
Chromosome 1 ◽  
Centromeric Heterochromatin ◽  
Reference Laboratory ◽  
Icf Syndrome ◽  
Facial Anomalies ◽  
Chromosomal Data

Instability of the heterochromatic centromeric regions of chromosomes 1 associated with immunodeficiency was found in a 3 and half months old girl. The case was referred to Department of Genetics, Global Reference Laboratory, Metropolis Healthcare Ltd, Mumbai with the suspicion of Downs Syndrome for chromosomal karyotyping. This patient had facial anomalies in addition to combined immunodeficiency and chromosomal instability. Stretching of the heterochromatic centromeric regions of chromosomes 1 and homologous and non-homologous associations of these regions were the most common cytogenetic findings in this patient. Multi-branched configurations and whole arm deletions of chromosomes 1 were also found. Comparing clinical and chromosomal data we conclude that the patient was suffering from immunodeficiency, centromeric heterochromatin instability and facial syndrome. The chromosomal karyotyping report was showing instability around vicinity of chromosome 1 and various abnormalities around vicinity of both chromosomes 1 were found in form of random breakages of chromosome 1, fragile sites, deletions/duplications of small and long arm, extra copies of chromosome 1 with rosette formations, exchange of arms and partial aneuploidies of chromosome 1. Further, the investigations regarding the immune status revealed that the level of IgM (5.98 mg/dl), IgA (<6.16mg/dl) and IgG (92.10 mg/dl) subgroup of immunoglobulin was very low. The results were consistent with The Immunodeficiency, Centromeric region instability, Facial anomalies (ICF) syndrome. Second sample from the patient for molecular studies could not be collected and performed since the patient failed to survive after 3 and half months.

scholarly journals Persistent epigenetic memory impedes rescue of the telomeric phenotype in human ICF iPSCs following DNMT3B correction

eLife ◽  
2019 ◽  
Vol 8 ◽  
Author(s):  
Shir Toubiana ◽  
Miriam Gagliardi ◽  
Mariarosaria Papa ◽  
Roberta Manco ◽  
Maty Tzukerman ◽  
...  
Keyword(s):  
Dna Methylation ◽  
Dna Methyltransferase ◽  
De Novo ◽  
Pharmacological Intervention ◽  
Icf Syndrome ◽  
Genome Wide ◽  
Mammalian Genomes ◽  
Induced Pluripotent ◽  
Methylation Patterns

DNA methyltransferase 3B (DNMT3B) is the major DNMT that methylates mammalian genomes during early development. Mutations in human DNMT3B disrupt genome-wide DNA methylation patterns and result in ICF syndrome type 1 (ICF1). To study whether normal DNA methylation patterns may be restored in ICF1 cells, we corrected DNMT3B mutations in induced pluripotent stem cells from ICF1 patients. Focusing on repetitive regions, we show that in contrast to pericentromeric repeats, which reacquire normal methylation, the majority of subtelomeres acquire only partial DNA methylation and, accordingly, the ICF1 telomeric phenotype persists. Subtelomeres resistant to de novo methylation were characterized by abnormally high H3K4 trimethylation (H3K4me3), and short-term reduction of H3K4me3 by pharmacological intervention partially restored subtelomeric DNA methylation. These findings demonstrate that the abnormal epigenetic landscape established in ICF1 cells restricts the recruitment of DNMT3B, and suggest that rescue of epigenetic diseases with genome-wide disruptions will demand further manipulation beyond mutation correction.

scholarly journals Three novel ZBTB24 mutations identified in Japanese and Cape Verdean type 2 ICF syndrome patients

2013 ◽  
Vol 58 (7) ◽  
pp. 455-460 ◽  
Author(s):  
Hirohisa Nitta ◽  
Motoko Unoki ◽  
Kenji Ichiyanagi ◽  
Tomoki Kosho ◽  
Tomonari Shigemura ◽  
...  
Keyword(s):  
Cape Verdean ◽  
Icf Syndrome

ICF Syndrome

2014 ◽  
pp. 1-5
Author(s):  
Motoko Unoki ◽  
Hiroyuki Sasaki
Keyword(s):  
Icf Syndrome

3D position of pericentromeric heterochromatin within the nucleus of a patient with ICF syndrome

2011 ◽  
Vol 82 (2) ◽  
pp. 187-192 ◽  
Author(s):  
C Dupont ◽  
F Guimiot ◽  
L Perrin ◽  
I Marey ◽  
D Smiljkovski ◽  
...  
Keyword(s):  
Pericentromeric Heterochromatin ◽  
Icf Syndrome
Sign in / Sign up

Export Citation Format

Share Document