Corrigendum: Mutations in CDCA7 and HELLS cause immunodeficiency–centromeric instability–facial anomalies syndrome
نویسندگان
چکیده
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.
منابع مشابه
Mutations in CDCA7 and HELLS cause immunodeficiency–centromeric instability–facial anomalies syndrome
Supplementary Figure 1: Repeat hypomethylation in ICF patients from families E, F and G (a, b) Sat-α methylation analysis using HhaI digestion followed by Southern blot analysis of healthy controls and patients 2.1 from family E and 2.2 from family F showed hypomethylation in the patient derived samples. (c) SatII (BstBI) and Sat-α (HhaI) methylation analysis by Southern blot analysis in DNA de...
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