How to Cite this Article: Begemann M, Spengler S, Kordaß U, Schröder C, Eggermann T. 2012. Segmental maternal uniparental disomy 7q associated with DLK1/GTL2 (14q32) hypomethylation. Am J Med Genet Part A 158A:423–428.
Segmental maternal uniparental disomy 7q associated with DLK1/GTL2 (14q32) hypomethylation†
Article first published online: 13 JAN 2012
Copyright © 2012 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 158A, Issue 2, pages 423–428, February 2012
How to Cite
Begemann, M., Spengler, S., Kordaß, U., Schröder, C. and Eggermann, T. (2012), Segmental maternal uniparental disomy 7q associated with DLK1/GTL2 (14q32) hypomethylation. Am. J. Med. Genet., 158A: 423–428. doi: 10.1002/ajmg.a.34412
- Issue published online: 19 JAN 2012
- Article first published online: 13 JAN 2012
- Manuscript Accepted: 10 NOV 2011
- Manuscript Received: 3 MAY 2011
- Bundesministerium für Bildung und Forschung (Network Imprinting Diseases). Grant Number: 01GM0884
- Else Kröner Fresenius-Stiftung
- Silver–Russell syndrome;
- upd(14)mat syndrome;
- DLK1/GTL2 hypomethylation;
- imprinted gene network
Aberrant methylation at different imprinted loci has been reported for several congenital imprinting disorders, that is, Silver–Russell syndrome (SRS), but the coincidental occurrence of aberrant methylation and uniparental disomy (UPD) has not yet been described. We report on a patient initially diagnosed with SRS carrying a segmental maternal UPD of chromosome 7 [upd(7q)mat]. By further screening the patient's DNA for methylation defects on other chromosomes we identified a hypomethylation of the paternally methylated DLK1/GTL2 locus in 14q32, an epigenotype typically associated with the upd(14)mat phenotype. Detailed clinical analysis confirmed the molecular finding in the patient indicating that the 14q32 epimutation was clinically preponderant. The parallel occurrence of upd(7q)mat and a DLK1/GTL2 hypomethylation in the same patient is a unique finding. Indeed, both disturbances might have occurred coincidentally, but it can also be hypothesized that the upd(7q)mat as the initial genomic mutation represents a trans-acting mutation causing an aberrant methylation in 14q32. © 2012 Wiley Periodicals, Inc.