Journal
AMERICAN JOURNAL OF HUMAN GENETICS
Volume 82, Issue 1, Pages 181-187Publisher
CELL PRESS
DOI: 10.1016/j.ajhg.2007.08.001
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Funding
- Wellcome Trust Funding Source: Medline
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Recently, large-scale benign copy-number variations (CNVs)-encompassing over 12% of the genome and containing genes considered to be dosage tolerant for human development-were uncovered in the human population. Here we present a family with a novel autosomal-dominantly inherited syndrome characterized by microtia, eye coloboma, and imperforation of the nasolacrimal duct. This phenotype is linked to a cytogenetically visible alteration at 4pter consisting of five copies of a copy-number-variable region, encompassing a low-copy repeat (LCR)-rich sequence. We demonstrate that the similar to 750 kb amplicon occurs in exact tandem copies. This is the first example of an amplified CNV associated with a Mendelian disorder, a discovery that implies that genome screens for genetic disorders should include the analysis of so-called benign CNVs and LCRs.
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