Abstract
BackgroundICF syndrome (standing for Immunodeficiency, Centromere instability and Facial anomalies syndrome) is a very rare autosomal recessive immune disorder caused by mutations of the gene de novo DNA-methyltransferase 3B (DNMT3B). However, in the literature similar clinical cases without such mutations are reported, as well.ResultsWe report on a family in which the unrelated spouses had two female siblings sharing similar phenotypic features resembling ICF-syndrome, i.e. congenital abnormalities, immunodeficiency, developmental delay and high level of chromosomal instability, including high frequency of centromeric/pericentromeric rearrangements and breaks, chromosomal fragments despiralization or pulverization. However, mutations in DNMT3B could not be detected.ConclusionThe discovery of a new so-called 'chromatin disorder' is suggested. Clinical, molecular genetic and cytogenetic characteristics are reported and compared to other 'chromatin disorders'.
Highlights
ICF syndrome is a very rare autosomal recessive immune disorder caused by mutations of the gene de novo DNAmethyltransferase 3B (DNMT3B)
Several human diseases which are characterized by alterations or modification of chromatin structure caused by changes of methylation pattern are considered as so-called ‘chromatin disorders’ [1]
ICF syndrome belongs to the aforementioned disorders and is a rare recessive disease caused by mutations of the gene DNMT3B that encodes the ‘de novo DNAmethyltransferase 3B’ [2,3,4]
Summary
ICF syndrome (standing for Immunodeficiency, Centromere instability and Facial anomalies syndrome) is a very rare autosomal recessive immune disorder caused by mutations of the gene de novo DNAmethyltransferase 3B (DNMT3B). ICF syndrome (for immunodeficiency, centromere instability and facial anomalies; OMIM #242860) belongs to the aforementioned disorders and is a rare recessive disease caused by mutations of the gene DNMT3B that encodes the ‘de novo DNAmethyltransferase 3B’ [2,3,4]. Recent data showed that clinically defined ICF patients divided into two subgroups and only about 60% of them had the DNMT3B mutations and normal methylation of the alpha satellites. For both groups is in common, that they have characteristic heterochromatin abnormalities and undermethylation of classical satellites 2 and 3
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