Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/53459
Citations
Scopus Web of ScienceĀ® Altmetric
?
?
Type: Journal article
Title: Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy
Author: Lugtenberg, D.
Kleefstra, T.
Oudakker, A.
Nillesen, W.
Yntema, H.
Tzschach, A.
Raynaud, M.
Rating, D.
Journel, H.
Chelly, J.
Goizet, C.
Lacombe, D.
Pedespan, J.
Echenne, B.
Tariverdian, G.
O'Rourke, D.
King, M.
Green, A.
Van Kogelenberg, M.
Van Esch, H.
et al.
Citation: European Journal of Human Genetics, 2009; 17(4):444-453
Publisher: Nature Publishing Group
Issue Date: 2009
ISSN: 1018-4813
1476-5438
Statement of
Responsibility: 
Dorien Lugtenberg...Jozef Gecz...et al.
Abstract: Duplications in Xq28 involving MECP2 have been described in patients with severe mental retardation, infantile hypotonia, progressive spasticity, and recurrent infections. However, it is not yet clear to what extent these and accompanying symptoms may vary. In addition, the frequency of Xq28 duplications including MECP2 has yet to be determined in patients with unexplained X-linked mental retardation and (fe)males with severe encephalopathy. In this study, we used multiplex ligation-dependent probe amplification to screen Xq28 including MECP2 for deletions and duplications in these patient cohorts. In the group of 283 patients with X-linked mental retardation, we identified three Xq28 duplications including MECP2, which suggests that approximately 1% of unexplained X-linked mental retardation may be caused by MECP2 duplications. In addition, we found three additional MECP2 duplications in 134 male patients with mental retardation and severe, mostly progressive, neurological symptoms, indicating that the mutation frequency could be as high as 2% in this group of patients. In 329 female patients, no Xq28 duplications were detected. In total, we assessed 13 male patients with a MECP2 duplication from six unrelated families. Moderate to severe mental retardation and childhood hypotonia was noted in all patients. The majority of the patients also presented with absent speech, seizures, and progressive spasticity as well as ataxia or an ataxic gait and cerebral atrophy, two previously unreported symptoms. We propose to implement DNA copy number testing for MECP2 in the current diagnostic testing in all males with moderate to severe mental retardation accompanied by (progressive) neurological symptoms.
Keywords: MECP2; Xq28; XLMR; encephalopathy; duplications
RMID: 0020083520
DOI: 10.1038/ejhg.2008.208
Appears in Collections:Paediatrics publications

Files in This Item:
There are no files associated with this item.


Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.