The chromosome 15q13.3 microdeletion [MIM %612001] is a genomic disorder, characterized by a recurrent 1.5 Mb micro-deletion on chromosome 15q13.3. Also, smaller deletions of ~680 kb within the same region may lead to an overlapping phenotype. However, not all carriers of the deletion show clinical features suggesting that in these individuals deletion of 15q13.3 is not sufficient to cause disease.
The Department of Human Genetics of the Radboud University Nijmegen Medical Centre and the Department of Genome Sciences of the University of Washington School of Medicine would like to assess further the clinical implications of 15q13.3 microdeletions in probands (children and adults) and their family members. In addition, we wish to study the molecular pathogenesis of this condition and to find out what are the underlying causes for the great variability in phenotype.
Our project involves the collection of clinical information and DNA and EBV-transformed B cell lines from individuals with the 15q13.3 microdeletion. The studies will be carried out at the Department of Human Genetics of the Radboud University Nijmegen Medical Centre in The Netherlands and at the Department of Genome Sciences, University of Washington School of Medicine in the USA.