Novel clinical finding in MECP2 duplication syndrome
Letter to the editor
First Online:
Received:
Accepted:
- 224 Downloads
- 7 Citations
Keywords
Intellectual Disability Broad Autism Phenotype Recurrent Respiratory Infection Autistic Feature Severe Intellectual Disability
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.
Notes
Acknowledgments
This work was supported by the following grants: CNCSIS Project no. 1203, PN Project no. 09330203 and PN II Project no. 42–130.
Conflict of interest
None.
References
- 1.Ropers HH (2006) X-linked mental retardation: many genes for a complex disorder. Curr Opin Genet Dev 16:260–269PubMedCrossRefGoogle Scholar
- 2.Sanlaville D, Schluth-Bolard C, Turleau C (2009) Distal Xq duplication and functional Xq disomy. J Rare Dis 4:4CrossRefGoogle Scholar
- 3.Meins M, Lehmann J, Gerresheim F, Herchenbach J, Hagedorn M, Hameister K, Epplen JT (2005) Submicroscopic duplication in Xq28 causes increased expression of the MECP2 gene in a boy with severe mental retardation and features of Rett syndrome. J Med Genet 42:e12PubMedCrossRefGoogle Scholar
- 4.Van Esch H, Bauters M, Ignatius J, Jansen M, Raynaud M, Hollanders K, Lugtenberg D, Bienvenu T, Jensen LR, Gecz J, Moraine C, Marynen P, Fryns JP, Froyen G (2005) Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males. Am J Hum Genet 77:442–453PubMedCrossRefGoogle Scholar
- 5.del Gaudio D, Fang P, Scaglia F, Ward PA, Craigen WJ, Glaze DG, Neul JL, Patel A, Lee JA, Irons M, Berry SA, Pursley AA, Grebe TA, Freedenberg D, Martin RA, Hsich GE, Khera JR, Friedman NR, Zoghbi HY, Eng CM, Lupski JR, Beaudet al Cheung SW, Roa BB (2006) Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males. Genet Med 8:784–792PubMedCrossRefGoogle Scholar
- 6.Friez MJ, Jones JR, Clarkson K, Lubs H, Abuelo D, Bier JA, Pai S, Simensen R, Williams C, Giampietro PF, Schwartz CE, Stevenson RE (2006) Recurrent infections, hypotonia, and mental retardation caused by duplication of MECP2 and adjacent region in Xq28. Pediatrics 118:e1687–e1695PubMedCrossRefGoogle Scholar
- 7.Smyk M, Obersztyn E, Nowakowska B, Nawara M, Cheung SW, Mazurczak T, Stankiewicz P, Bocian E (2008) Different-sized duplications of Xq28, including MECP2, in three males with mental retardation, absent or delayed speech, and recurrent infections. Am J Med Genet B Neuropsychiatr Genet 147B:799–806PubMedCrossRefGoogle Scholar
- 8.Clayton-Smith J, Walters S, Hobson E, Burkitt-Wright E, Smith R, Toutain A, Amiel J, Lyonnet S, Mansour S, Fitzpatrick D, Ciccone R, Ricca I, Zuffardi O, Donnai D (2009) Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance. Eur J Hum Genet 17:434–443PubMedCrossRefGoogle Scholar
- 9.Prescott TE, Rødningen OK, Bjørnstad A, Stray-Pedersen A (2009) Two brothers with a microduplication including the MECP2 gene: rapid head growth in infancy and resolution of susceptibility to infection. Clin Dysmorphol 18:78–82PubMedCrossRefGoogle Scholar
- 10.Echenne B, Roubertie A, Lugtenberg D, Kleefstra T, Hamel BC, Van Bokhoven H, Lacombe D, Philippe C, Jonveaux P, de Brouwer AP (2009) Neurologic aspects of MECP2 gene duplication in male patients. Pediatr Neurol 41:187–191PubMedCrossRefGoogle Scholar
- 11.Ramocki MB, Peters SU, Tavyev YJ, Zhang F, Carvalho CM, Schaaf CP, Richman R, Fang P, Glaze DG, Lupski JR, Zoghbi HY (2009) Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome. Ann Neurol 66:771–782PubMedCrossRefGoogle Scholar
- 12.Lugtenberg D, Kleefstra T, Oudakker AR, Nillesen WM, Yntema HG, Tzschach A, Raynaud M, Rating D, Journel H, Chelly J, Goizet C, Lacombe D, Pedespan JM, Echenne B, Tariverdian G, O’Rourke D, King MD, Green A, van Kogelenberg M, Van Esch H, Gecz J, Hamel BC, van Bokhoven H, de Brouwer AP (2009) Structural variation in Xq28: MECP2 duplication in 1% of patients with unexplaoned XLMR and in 2% of male patients with severe encephalopathy. Eur J Hum Genet 17:444–453Google Scholar
- 13.Rhead B, Karolchik D, Kuhn RM, Hinrichs AS, Zweig AS, Fujita P, Diekhans M, Smith KE, Rosenbloom KR, Raney BJ, Pohl A, Pheasant M, Meyer L, Hsu F, Hillman-Jackson J, Harte RA, Giardine B, Dreszer T, Clawson H, Barber GP, Haussler D, Kent WJ (2010) The UCSC Genome Browser database: update 2010. Nucleic Acids Res 38 D613–D619. http://www.genome.ucsc.edu/
- 14.Iafrate AJ, Feuk L, Rivera MN, Listewnik ML, Donahoe PK, Qi Y, Scherer SW, Lee C (2004) Detection of large-scale variation in the human genome. Nat Genet 36:949–951. http://www.projects.tcag.ca/variation/ Google Scholar
- 15.Shaikh TH, Gai X, Perin JC, Glessner JT, Xie H, Murphy K, O’Hara R, Casalunovo T, Conlin LK, D’Arcy M, Franckelton EC, Geiger EA, Haldeman-Englert C, Imielinski M, Kim CE, Medne L, Annaiah K, Bradfield J, Dabaghyan E, Eckert A, Onyiah CC, Ostapenko S, Otieno FG, Santa E, Shaner JL, Skraban R, Smith RM, Elia J, Goldmuntz E, Spinner NB, Zackai EH, Chiavacci RM, Grundmeier R, Rappaport EF, Grant SFA, White PS, Hakonarson H (2009) High resolution mapping and analysis of copy number variations in the human genome: A data resource for clinical and research applications. Genome Res 19:1682–1690. http://cnv.chop.edu/ Google Scholar
Copyright information
© Springer-Verlag 2011