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Abstract
The life-threatening Immunodeficiency, Centromeric Instability and Facial Anomalies (ICF) syndrome is a genetically heterogeneous autosomal recessive disorder. Twenty percent of patients cannot be explained by mutations in the known ICF genes DNA methyltransferase 3B or zinc-finger and BTB domain containing 24. Here we report mutations in the cell division cycle associated 7 and the helicase, lymphoid-specific genes in 10 unexplained ICF cases. Our data highlight the genetic heterogeneity of ICF syndrome; however, they provide evidence that all genes act in common or converging pathways leading to the ICF phenotype.
Highlights
The life-threatening Immunodeficiency, Centromeric Instability and Facial Anomalies (ICF) syndrome is a genetically heterogeneous autosomal recessive disorder
By using an autosomal recessive inheritance model and prioritizing homozygous variants in consanguineous families, we identify four different homozygous and potentially damaging variants in the cell division cycle associated 7 (CDCA7) gene in five ICFX patients
We show that knockdown of both new ICF genes leads to hypomethylation of juxtacentromeric heterochromatin repeats in a murine cell model
Summary
The life-threatening Immunodeficiency, Centromeric Instability and Facial Anomalies (ICF) syndrome is a genetically heterogeneous autosomal recessive disorder. 2 Division of Epigenomics and Development, Department of Molecular Genetics, Medical Institute of Bioregulation, Kyushu University, Fukuoka 812-8582, Japan. CpG hypomethylation of juxtacentromeric satellite types II and III is a diagnostic for ICF syndrome, with additional hypomethylation of centromeric a-satellite repeats in DNMT3B mutation-negative patients[5,6].
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