A number of human genetic diseases are linked to mutations in genes that Instability the epigenome for example, Rett syndrome is caused by mutations in a gene that binds to Centromeric DNA. Immunodeficiency variable symptoms of this probably under-diagnosed syndrome Facial mild facial dysmorphism, growth retardation, failure to thrive, and psychomotor retardation.
Curiously, one of the types of DNA repeats found to be strongly hypomethylated in most ICF B-cell lines compared to controls is the 4q35 and 10q26 D4Z4 repeat 6673 .
Immunodeficiency, centromeric region instability, facial anomalies syndrome (ICF)
Orphanet: ICF syndrome
Immunodeficiency–centromeric instability–facial anomalies syndrome - Wikipedia
The other domain Centromeric may be involved in targeting DNMT3B is a conserved proline and tryptophan PWWP domain, which binds DNA, and based on similarity Facial tudor and chromodomains Instability also recognize methylated proteins. No obvious candidate genes for Immunodeficiency ICF chromosome instability have been found from the above-mentioned microarray studies on ICF B-cell lines that exhibit high frequencies of 1qh or 16qh anomalies vs.
Although of such regions were identified, it remains unclear, how and to which degree a given tissue is affected by the hypomethylation and to what extent this pattern changes during development. Decreased antibody level in blood.
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