Analysis of MECP2 gene copy number in boys with autism

Journal of Child Neurology

Volumn 26, Issue 5, 2011, Pages 570-573

  Xi, Chun Yan ^a   Lu, Yao ^a   Tan, Ying Hua ^a   Hua, Tian Yi ^a   Zhao, Yun Jing ^a   Liu, Xiao Mei ^a   Gao, Hong ^a  

^a CHINA MEDICAL UNIVERSITY   (China)

Author keywords

autism; duplication; MECP2 gene

Indexed keywords

METHYL CPG BINDING PROTEIN 2;

ARTICLE; AUTISM; CHILD; CONTROLLED STUDY; COPY NUMBER VARIATION; GENE DOSAGE; GENE DUPLICATION; GENETIC ASSOCIATION; HUMAN; MAJOR CLINICAL STUDY; MALE; PRESCHOOL CHILD; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION; SCHOOL CHILD;

AUTISTIC DISORDER; CHILD; CHILD, PRESCHOOL; DNA COPY NUMBER VARIATIONS; DNA MUTATIONAL ANALYSIS; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; METHYL-CPG-BINDING PROTEIN 2;

EID: 79955589476     PISSN: 08830738     EISSN: 17088283     Source Type: Journal    
DOI: 10.1177/0883073810387138     Document Type: Article

References (24)

1. Amir RE, Vand VI, Wan M., et al. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet. 1999 ; 23: 185-188. (Pubitemid 29455390)
2. Lord C., Shulman C., DiLavore P. Regression and word loss in autistic spectrum disorders. J Child Psychol Psychiatry. 2004 ; 45: 936-955. (Pubitemid 38961493)
3. Rogers SJ Developmental regression in autism spectrum disorders. Ment Retard Dev Disabil Res Rev. 2004 ; 10: 139-143. (Pubitemid 39329022)
4. Vourc'h P., Bienvenu T., Beldjord C., et al. No mutations in the coding region of the Rett syndrome gene MECP2 in 59 autistic patients. J Hum Genet. 2001 ; 9: 556-558. (Pubitemid 32750498)
5. Lobo-Menendez F., Sossey-Alaoui K., Bell JM, et al. Absence of MeCP2 mutations in patients from the South Carolina autism project. Am J Med Genet. 2003 ; 17B: 97-101. (Pubitemid 37059368)
6. Xi CY, Ma HW, Lu Y., et al. MeCP2 gene mutation analysis in autistic boys with developmental regression. Psychiatr Genet. 2007 ; 17: 113-116. (Pubitemid 46586683)
7. Santos M., Temudo T., Kay T., et al. Mutations in the MECP2 gene are not a major cause of Rett syndrome-like or related neurodevelopmental phenotype in male patients. J Child Neurol. 2009 ; 24: 49-55.
8. Collins AL, Levenson JM, Vilaythong AP, et al. Mild overexpression of MeCP2 causes a progressive neurological disorder in mice. Hum Mol Genet. 2004 ; 13: 2679-2689. (Pubitemid 39485416)
9. Luikenhuis S., Giacometti E., Beard CF, Jaenisch R. Expression of MeCP2 in postmitotic neurons rescues Rett syndrome in mice. Proc Natl Acad Sci USA. 2004 ; 101: 6033-6038. (Pubitemid 38520523)
10. Van Esch H., Bauters M., Ignatius J., et al. Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males. Am J Hum Genet. 2005 ; 77: 442-453. (Pubitemid 41192650)
11. Del Gaudio D., Fang P., Scaglia F., e al. Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males. Genet Med. 2006 ; 8: 784-792. (Pubitemid 44973767)
12. Ramocki M., Sarika UP, Tavyev YJ, et al. Autism and other neuropsychiatric symptoms are prevalent in individuals with MECP2duplication syndrome. Ann Neurology. 2009 ; 66: 771-782.
13. Ariani F., Mari F., Pescucci C., et al. Real-time quantitative PCR as a routine method for screening large rearrangements in Rett syndrome: report of one case of MECP2 deletion and one case of MECP2 duplication. Human Mutation. 2004 ; 24: 172-177. (Pubitemid 39006597)
14. Echenne B., Roubertie A., Lugtenberg D., et al. Neurologic aspects of MECP2 gene duplication in male patients. Pediatr Neurol. 2009 ; 41: 187-191.
15. Aarskog NK, Vedeler CA Real-time quantitative polymerase chain reaction. A new method that detects both the peripheral myelin protein 22 duplication in Charcot-Marie-tooth type 1A disease and the peripheral myelin protein 22 deletion in hereditary neuropathy with liability to pressure palsies. Hum Genet. 2000 ; 107: 494-498. (Pubitemid 32000420)
16. Thiel CT, Kraus C., Rauch A., et al. A new quantitative PCR multiplex assay for rapid analysis of chromosome 17p11.2-12 duplications and deletions leading to HMSN/HNPP. Eur J Hum Genet. 2003 ; 11: 170-178. (Pubitemid 36372391)
17. Van Esch H. MECP2 duplication syndrome. In: Pagon RA, Bird TC, Dolan CR, Stephens K, eds. Gene Reviews. Seattle, WA University of Washington, Seattle ; 2008 :18.
18. Ramocki MB, Tavyev YJ, Peters SU The MECP2 duplication syndrome. Am J Med Genet. 2010 ; 152A: 1079-1088.
19. Friez MJ, Jones JR, Clarkson K., et al. Recurrent infections, hypotonia, and mental retardation caused by duplication of MECP2 and adjacent region in Xq28. Pediatrics. 2006 ; 118: e1687-1695.
20. Smyk M., Obersztyn E., Nowakowska B., et al. Different-sized duplications of Xq28, including MECP2, in three males with mental retardation, absent or delayed speech, and recurrent infections. Am J Med Genet. 2007 ; 147B: 799-806.
21. Prescott TE, Rodningen OK, Bjornstad A., Stray-Pedersen A. Two brothers with a microduplication including the MECP2 gene: rapid head growth in infancy and resolution of susceptibility to infection. Clin Dysmorphol. 2008 ; 18: 78-82.
22. Kirk EP, Malaty-Brevaud V., Martini N., et al. The clinical variability of the MECP2 duplication syndrome: description of two families with duplications excluding L1CAM and FLNA. Clin Genet. 2009 ; 75: 301-303.
23. Chahrour M., Jung SY, Shaw C., et al. MeCP2, a key contributor to neurological disease, activates and represses transcription. Science. 2008 ; 30: 1224-1229. (Pubitemid 351929512)
24. Loat CS, Curran S., Lewis CM, et al. Methyl-CpG-binding protein 2 polymorphisms and vulnerability to autism. Genes Brain Behav. 2008 ; 7: 754-760.