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)
Full text not currently available from Enlighten.
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, Professor 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 > School of Cancer Sciences |
| Journal Name: | American Journal of Human Genetics |
| Publisher: | Elseiver |
| ISSN: | 0002-9297 |
| ISSN (Online): | 1537-6605 |
| Published Online: | 04 January 2008 |
| Related URLs: |
University Staff: Request a correction | Enlighten Editors: Update this record
Altmetric
Altmetric