Article
Identification of cis- and trans-acting factors possibly modifying the risk of epimutations on chromosome 15.
European journal of human genetics : EJHG - 1 Jun 2006
Zogel Corinna, Böhringer Stefan, Gross Stephanie, Varon Raymonda, Buiting Karin, Horsthemke Bernhard
Abstract excerpt
In the majority of patients with a chromosome 15 imprinting defect (ID) causing Prader-Willi syndrome (PWS) or Angelman syndrome (AS), the defect is a primary epimutation that occurred spontaneously in the absence of a DNA mutation. We have investigated whether common DNA sequence variants in the bipartite imprinting centre (IC) are associated with an increased susceptibility to imprinting defects. We have...
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