How to cite this article: Bedeschi MF, Novelli A, Bernardini L, Parazzini C, Bianchi V, Torres B, Natacci F, Giuffrida MG, Ficarazzi P, Dallapiccola B, Lalatta F. 2008. Association of syndromic mental retardation with an Xq12q13.1 duplication encompassing the oligophrenin 1 gene. Am J Med Genet Part A 146A:1718–1724.
Association of syndromic mental retardation with an Xq12q13.1 duplication encompassing the oligophrenin 1 gene†
Article first published online: 16 JUN 2008
Copyright © 2008 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 146A, Issue 13, pages 1718–1724, 1 July 2008
How to Cite
Bedeschi, M. F., Novelli, A., Bernardini, L., Parazzini, C., Bianchi, V., Torres, B., Natacci, F., Giuffrida, M. G., Ficarazzi, P., Dallapiccola, B. and Lalatta, F. (2008), Association of syndromic mental retardation with an Xq12q13.1 duplication encompassing the oligophrenin 1 gene. Am. J. Med. Genet., 146A: 1718–1724. doi: 10.1002/ajmg.a.32365
- Issue published online: 16 JUN 2008
- Article first published online: 16 JUN 2008
- Manuscript Accepted: 30 MAR 2008
- Manuscript Received: 21 NOV 2007
- X-linked mental retardation;
- brain anomalies;
- duplication oligophrenin 1;
- genetic counseling;
- array CGH;
- FISH analysis
OPHN1 mutations cause a syndromic form of mental retardation (MR) characterized by cerebellar hypoplasia, early hypotonia, motor and speech delay, with occasional seizures and strabismus. Here we report on a familial chromosome duplication spanning about 800 Kb of Xq12q13.1, associated with MR and a distinctive phenotype in the affected male, but not in his heterozygous mother. The parents were healthy and non-consanguineous with a history of three pregnancies. The first resulted in the birth of a boy with MR, motor impairment and seizures. The second pregnancy was terminated because of trisomy 18. At the time of the third, the first affected boy was analyzed by array-CGH, which revealed a 800 Kb duplication at Xq12q13.1, encompassing three genes, including OPHN1. This mutation was inherited from his healthy mother and was not present in any of the three maternal brothers. To our knowledge this is the first report of a clinical phenotype associated with duplication of Xq12q13. © 2008 Wiley-Liss, Inc.