How to Cite this Article: Saugier-Veber P, Doummar D, Barthez M-A, Czernecki V, Drouot N, Apartis E, Bürglen L, Frebourg T, Roze E. 2010. Myoclonus dystonia plus syndrome due to a novel 7q21 microdeletion. Am J Med Genet Part A 152A:1244–1249.
Myoclonus dystonia plus syndrome due to a novel 7q21 microdeletion†
Article first published online: 22 APR 2010
Copyright © 2010 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 152A, Issue 5, pages 1244–1249, May 2010
How to Cite
Saugier-Veber, P., Doummar, D., Barthez, M.-A., Czernecki, V., Drouot, N., Apartis, E., Bürglen, L., Frebourg, T. and Roze, E. (2010), Myoclonus dystonia plus syndrome due to a novel 7q21 microdeletion. Am. J. Med. Genet., 152A: 1244–1249. doi: 10.1002/ajmg.a.33369
- Issue published online: 22 APR 2010
- Article first published online: 22 APR 2010
- Manuscript Accepted: 23 JAN 2010
- Manuscript Received: 29 JUL 2009
- myoclonus dystonia;
- 7q21 microdeletion;
- SGCE gene;
- mental retardation;
- growth retardation
Myoclonus dystonia (M-D) is a rare genetic movement disorder characterized by a combination of myoclonic jerks and dystonia. It is usually due to mutations in the SGCE gene. We report on a patient with a typical M-D syndrome, but also short stature, microcephaly, and mental retardation. Molecular analysis showed no mutations within the SGCE gene but a microdeletion encompassing the SGCE gene in chromosome region 7q21. Array-CGH analysis showed that the deletion spanned approximately 1.88 Mb. We suggest that M-D plus patients with mental retardation, microcephaly, dysmorphism, or short stature, all frequently associated disorders, should be screened for 7q21 microdeletion. By examining previously published cases of mental retardation associated with pure 7q21 deletions, we identified two distinct regions of respectively 455 and 496 kb that are critical for mental retardation and growth retardation. Among the genes located within these regions, LOC253012, also known as HEPACAM2, is a good candidate for both mental retardation and microcephaly. © 2010 Wiley-Liss, Inc.