Prenatal diagnosis of foetuses with congenital abnormalities and duplication of the MECP2 region.

Abstract

MECP2 duplication results in a well-recognised syndrome in 100% of affected male children; this syndrome is characterised by severe neurodevelopmental disabilities and recurrent infections. However, no sonographic findings have been reported for affected foetuses, and prenatal molecular diagnosis has not been possible for this disease due to lack of prenatal clinical presentation. In this study, we identified a small duplication comprising the MECP2 and L1CAM genes in the Xq28 region in a patient from a family with severe X-linked mental retardation and in a prenatal foetus with brain structural abnormalities. Using high-resolution chromosome microarray analysis (CMA) to screen 108 foetuses with congenital structural abnormalities, we identified additional three foetuses with the MECP2 duplication. Our study indicates that ventriculomegaly, hydrocephalus, agenesis of the corpus callosum, choroid plexus cysts, foetal growth restriction and hydronephrosis might be common ultrasound findings in prenatal foetuses with the MECP2 duplication and provides the first set of prenatal cases with MECP2 duplication, the ultrasonographic phenotype described in these patients will help to recognise the foetuses with possible MECP2 duplication and prompt the appropriate molecular testing.

• Authors: Fang Fu, Huan-ling Liu, Ru Li, Jin Han, Xin Yang, Pan Min, Li Zhen, Yong-ling Zhang, Gui-e Xie, Ting-ying Lei, Yan Li, Jian Li, Dong-zhi Li, Can Liao
• Journal: Gene (Gene) Vol. 546 Issue 2 Pg. 222-5 (Aug 10 2014) ISSN: 1879-0038 [Electronic] Netherlands
• PMID: 24914495 (Publication Type: Clinical Trial, Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright © 2014 Elsevier B.V. All rights reserved.

Chemical References

• MECP2 protein, human
• Methyl-CpG-Binding Protein 2

Topics

• Brain (abnormalities)
• Congenital Abnormalities (diagnosis, genetics)
• Female
• Fetus
• Humans
• Male
• Mental Retardation, X-Linked (diagnosis, genetics)
• Methyl-CpG-Binding Protein 2 (genetics)
• Prenatal Diagnosis (methods)