Bache Iben, Hjorth Mads, Bugge Merete, Holstebroe Søren, Hilden Jørgen, Schmidt Lone, Brondum-Nielsen Karen, Bruun-Petersen Gert, Jensen Peter K A, Lundsteen Claes, Niebuhr Erik, Rasmussen Kirsten, Tommerup Niels
Wilhelm Johannsen Centre for Functional Genome Research, Department of Medical Biochemistry and Genetics, University of Copenhagen, Blegdamsvej 3, 2200 Copenhagen N, Denmark.
Eur J Hum Genet. 2006 Apr;14(4):410-7. doi: 10.1038/sj.ejhg.5201592.
Balanced reciprocal translocations associated with genetic disorders have facilitated the identification of a variety of genes for early-onset monogenic disorders, but only rarely the genes associated with common and complex disorders. To assess the potential of chromosomal breakpoints associated with common/ complex disorders, we investigated the full spectrum of diseases in 731 carriers of balanced reciprocal translocations without known early-onset disorders in a nation-wide questionnaire-based re-examination. In 42 families, one of the breakpoints at the cytogenetic level concurred with known linkage data and/or the translocation co-segregated with the reported phenotype, for example, we found a significant linkage (lod score=2.1) of dyslexia and a co-segregating translocation with a breakpoint in a previously confirmed locus for dyslexia. Furthermore, we identified 441 instances of at least two unrelated carriers with concordant breakpoints and traits. If applied to other populations, re-examination of translocation carriers may identify additional genotype-phenotype associations, some of which may be novel and others that may coincide with and provide additional support of data presented here.
