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Gene. 2014 Aug 10;546(2):222-5. doi: 10.1016/j.gene.2014.06.012. Epub 2014 Jun 7.

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

Author information

1
Department of Prenatal Diagnostic Centre, Guangzhou Women and Children's Medical Centre, Guangzhou Medical University, Guangdong 510623, China.
2
Ultrasonic Department of Panyu Central Hospital, Guangzhou, Guangdong 511400, China.
3
Department of Prenatal Diagnostic Centre, Guangzhou Women and Children's Medical Centre, Guangzhou Medical University, Guangdong 510623, China. Electronic address: canliao@hotmail.com.

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.

KEYWORDS:

Chromosome microarray analysis; Congenital malformation; Prenatal diagnosis; The MECP2 duplication syndrome

PMID:
24914495
DOI:
10.1016/j.gene.2014.06.012
[Indexed for MEDLINE]

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