MECP2 duplication phenotype in symptomatic females: report of three further cases

Francesca Novara,Orsetta Zuffardi,Federico Sicca,Roberta Battini,Lucia Criscuolo,Roberto Ciccone,Simona Fiori,Alessandro Simonati,Annarita Contaldo

doi:10.1186/1755-8166-7-10

Abstract

BackgroundXq28 duplications, including MECP2 (methyl CpG-binding protein 2; OMIM 300005), have been identified in approximately 140 male patients presenting with hypotonia, severe developmental delay/intellectual disability, limited or absent speech and ambulation, and recurrent respiratory infections. Female patients with Xq28 duplication have been rarely reported and are usually asymptomatic. Altogether, only fifteen symptomatic females with Xq28 duplications including MECP2 have been reported so far: six of them had interstitial duplications while the remaining had a duplication due to an unbalanced X;autosome translocation. Some of these females present with unspecific mild to moderate intellectual disability whereas a more complex phenotype is reported for females with unbalanced X;autosome translocations.FindingsHere we report on the clinical features of three other adolescent to adult female patients with Xq28 interstitial duplications of variable size, all including MECP2 gene.ConclusionsMild to moderate cognitive impairment together with learning difficulties and speech delay were evident in each of our patients. Moreover, early inadequate behavioral patterns followed by persistent difficulties in the social and communication domains, as well as the occurrence of mild psychiatric disturbances, are common features of these three patients.

Highlights

Over the last decade, Xq28 duplications including Methyl CpG-binding protein 2 (MECP2), have been identified in approximately 140 male patients presenting with hypotonia, severe developmental delay/intellectual disability (DD/ID), limited or absent speech and ambulation, and recurrent respiratory infections [1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25]
* Correspondence: francesca.novara@unipv.it 1Department of Molecular Medicine, University of Pavia, Pavia, Italy Full list of author information is available at the end of the article the remaining cases the duplication originated by an X;autosome translocation [3,20,24,25,27,28,29,30,31,32]. Some of these females present with unspecific mild to moderate intellectual disability whereas a more complex phenotype is reported in subjects with unbalanced X;autosome translocations (Table 1)
We report on the clinical features of three other adolescent to adult females patients with Xq28 interstitial duplications of variable size, all including MECP2 gene, in order to improve the knowledge about phenotype associated with this clinical condition

Summary

Introduction

Xq28 duplications, including MECP2 (methyl CpG-binding protein 2; OMIM 300005), have been identified in approximately 140 male patients presenting with hypotonia, severe developmental delay/intellectual disability, limited or absent speech and ambulation, and recurrent respiratory infections. Xq28 duplications including MECP2 (methyl CpG-binding protein 2; OMIM 300005), have been identified in approximately 140 male patients presenting with hypotonia, severe developmental delay/intellectual disability (DD/ID), limited or absent speech and ambulation, and recurrent respiratory infections [1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25]. We report on the clinical features of three other adolescent to adult females patients with Xq28 interstitial duplications of variable size, all including MECP2 gene, in order to improve the knowledge about phenotype associated with this clinical condition

Methods

Results

Conclusion