Autosomal-dominant microtia linked to five tandem copies of a copy-number-variable region at chromosome 4p16

Balikova, I. et al. (2008) Autosomal-dominant microtia linked to five tandem copies of a copy-number-variable region at chromosome 4p16. American Journal of Human Genetics, 82(1), pp. 181-187. (doi:10.1016/j.ajhg.2007.08.001)

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Abstract

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 approximately 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.

Item Type:Articles
Status:Published
Refereed:Yes
Glasgow Author(s) Enlighten ID:Vetrie, Dr David
Authors: Balikova, I., Martens, K., Melotte, C., Amyere, M., Van Vooren, S., Moreau, Y., Vetrie, D., Fiegler, H., Carter, N.P., Liehr, T., Vikkula, M., Matthijs, G., Fryns, J.-P., Casteels, I., Devriendt, K., and Vermeesch, J.R.
Subjects:Q Science > Q Science (General)
College/School:College of Medical Veterinary and Life Sciences > Institute of Cancer Sciences
Journal Name:American Journal of Human Genetics
Publisher:Elseiver
ISSN:0002-9297
ISSN (Online):1537-6605
Published Online:04 January 2008
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