A case report of Chinese brothers with inherited MECP2-containing duplication: autism and intellectual disability, but not seizures or respiratory infections

BMC Medical Genetics

Volumn 13, Issue , 2012, Pages

  Xu, Xiu ^a   Xu, Qiong ^a   Zhang, Ying ^a   Zhang, Xiaodi ^b,c   Cheng, Tianlin ^b,c   Wu, Bingbing ^a   Ding, Yanhua ^a   Lu, Ping ^a   Zheng, Jingjing ^b,c   Zhang, Min ^b   Qiu, Zilong ^b   Yu, Xiang ^b  

^a CHILDREN S HOSPITAL OF FUDAN UNIVERSITY   (China)

^b Shanghai Jiao Tong University Affiliated Sixth People s Hospital   (China)

^c UNIVERSITY OF CHINESE ACADEMY OF SCIENCES   (China)

Author keywords

ASD; Autism; Chinese patients; CNV; MECP2

Indexed keywords

METHYL CPG BINDING PROTEIN 2;

ARTICLE; AUTISM; CASE REPORT; CHILD; CHINESE; CHROMOSOME 11Q; CHROMOSOME 2; FACE DYSMORPHIA; GENE DELETION; GENE DUPLICATION; HETEROZYGOTE; HUMAN; INTELLECTUAL IMPAIRMENT; MALE; MUSCLE HYPOTONIA; SCHOOL CHILD; SPEECH DISORDER; UNSTEADINESS;

ADOLESCENT; ADULT; AUTISTIC DISORDER; CHILD; CHROMOSOMES, HUMAN, PAIR 11; CHROMOSOMES, HUMAN, PAIR 2; DNA COPY NUMBER VARIATIONS; FEMALE; GAIT DISORDERS, NEUROLOGIC; GENE DUPLICATION; HUMANS; INTELLECTUAL DISABILITY; MALE; METHYL-CPG-BINDING PROTEIN 2; PEDIGREE; RESPIRATORY TRACT INFECTIONS; SEIZURES; SEQUENCE DELETION;

EID: 84865085089     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-13-75     Document Type: Article

References (52)

1. Abrahams BS, Geschwind DH. Advances in autism genetics: on the threshold of a new neurobiology. Nat Rev Genet 2008, 9(5):341-355. 10.1038/nrg2346, 2756414, 18414403.
2. Folstein SE, Rosen-Sheidley B. Genetics of autism: complex aetiology for a heterogeneous disorder. Nat Rev Genet 2001, 2(12):943-955. 10.1038/35103559, 11733747.
3. Freitag CM. The genetics of autistic disorders and its clinical relevance: a review of the literature. Mol Psychiatry 2007, 12(1):2-22. 10.1038/sj.mp.4001896, 17033636.
4. Toro R, Konyukh M, Delorme R, Leblond C, Chaste P, Fauchereau F, Coleman M, Leboyer M, Gillberg C, Bourgeron T. Key role for gene dosage and synaptic homeostasis in autism spectrum disorders. Trends Genet 2010, 26(8):363-372. 10.1016/j.tig.2010.05.007, 20609491.
5. Cooper GM, Coe BP, Girirajan S, Rosenfeld JA, Vu TH, Baker C, Williams C, Stalker H, Hamid R, Hannig V, et al. A copy number variation morbidity map of developmental delay. Nat Genet 2011, 43(9):838-846. 10.1038/ng.909, 3171215, 21841781.
6. Rett A. Cerebral atrophy associated with hyperammonaemia. Handbook of Clinical Neurology 1977, 305-329. Elsevier, Amsterdam, Vinken PJ, Bruyn GW, 29.
7. Amir RE, Van den Veyver IB, Wan M, Tran CQ, Francke U, Zoghbi HY. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet 1999, 23(2):185-188. 10.1038/13810, 10508514.
8. Moretti P, Zoghbi HY. MeCP2 dysfunction in Rett syndrome and related disorders. Curr Opin Genet Dev 2006, 16(3):276-281. 10.1016/j.gde.2006.04.009, 16647848.
9. Nomura Y. Early behavior characteristics and sleep disturbance in Rett syndrome. Brain Dev 2005, 27(Suppl 1):S35-S42.
10. Belligni EF, Palmer RW, Hennekam RC. MECP2 duplication in a patient with congenital central hypoventilation. Am J Med Genet A 2010, 152A(6):1591-1593.
11. Breman AM, Ramocki MB, Kang SH, Williams M, Freedenberg D, Patel A, Bader PI, Cheung SW. MECP2 duplications in six patients with complex sex chromosome rearrangements. Eur J Hum Genet 2010, 19(4):409-415. 3060318, 21119712.
12. Budisteanu M, Papuc SM, Tutulan-Cunita A, Budisteanu B, Arghir A. Novel clinical finding in MECP2 duplication syndrome. Eur Child Adolesc Psychiatry 2011, 20(7):373-375. 10.1007/s00787-011-0184-2, 21590509.
13. Campos M, Churchman SM, Santos-Reboucas CB, Ponchel F, Pimentel MM. High frequency of nonrecurrent MECP2 duplications among Brazilian males with mental retardation. J Mol Neurosci 2010, 41(1):105-109. 10.1007/s12031-009-9296-2, 19806472.
14. Clayton-Smith J, Walters S, Hobson E, Burkitt-Wright E, Smith R, Toutain A, Amiel J, Lyonnet S, Mansour S, Fitzpatrick D, et al. Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance. Eur J Hum Genet 2009, 17(4):434-443. 10.1038/ejhg.2008.192, 2986219, 18854860.
15. del Gaudio D, Fang P, Scaglia F, Ward PA, Craigen WJ, Glaze DG, Neul JL, Patel A, Lee JA, Irons M, et al. Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males. Genet Med 2006, 8(12):784-792. 10.1097/01.gim.0000250502.28516.3c, 17172942.
16. Echenne B, Roubertie A, Lugtenberg D, Kleefstra T, Hamel BC, Van Bokhoven H, Lacombe D, Philippe C, Jonveaux P, de Brouwer AP. Neurologic aspects of MECP2 gene duplication in male patients. Pediatr Neurol 2009, 41(3):187-191. 10.1016/j.pediatrneurol.2009.03.012, 19664534.
17. Friez MJ, Jones JR, Clarkson K, Lubs H, Abuelo D, Bier JA, Pai S, Simensen R, Williams C, Giampietro PF, et al. Recurrent infections, hypotonia, and mental retardation caused by duplication of MECP2 and adjacent region in Xq28. Pediatrics 2006, 118(6):e1687-e1695. 10.1542/peds.2006-0395, 17088400.
18. Kirk EP, Malaty-Brevaud V, Martini N, Lacoste C, Levy N, Maclean K, Davies L, Philip N, Badens C. The clinical variability of the MECP2 duplication syndrome: description of two families with duplications excluding L1CAM and FLNA. Clin Genet 2009, 75(3):301-303.
19. Lugtenberg D, de Brouwer AP, Kleefstra T, Oudakker AR, Frints SG, Schrander-Stumpel CT, Fryns JP, Jensen LR, Chelly J, Moraine C, et al. Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH. J Med Genet 2006, 43(4):362-370. 2563232, 16169931.
20. Lugtenberg D, Kleefstra T, Oudakker AR, Nillesen WM, Yntema HG, Tzschach A, Raynaud M, Rating D, Journel H, Chelly J, et al. Structural variation in Xq28: MECP2 duplications in 1 % of patients with unexplained XLMR and in 2 % of male patients with severe encephalopathy. Eur J Hum Genet 2009, 17(4):444-453. 10.1038/ejhg.2008.208, 2986218, 18985075.
21. Meins M, Lehmann J, Gerresheim F, Herchenbach J, Hagedorn M, Hameister K, Epplen JT. 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 2005, 42(2):e12. 10.1136/jmg.2004.023804, 1735993, 15689435.
22. 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 2009, 18(2):78-82. 10.1097/MCD.0b013e32831e19cd, 19057379.
23. Ramocki MB, Peters SU, Tavyev YJ, Zhang F, Carvalho CM, Schaaf CP, Richman R, Fang P, Glaze DG, Lupski JR, et al. Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome. Ann Neurol 2009, 66(6):771-782. 10.1002/ana.21715, 2801873, 20035514.
24. Reardon W, Donoghue V, Murphy AM, King MD, Mayne PD, Horn N, Birk Moller L. Progressive cerebellar degenerative changes in the severe mental retardation syndrome caused by duplication of MECP2 and adjacent loci on Xq28. Eur J Pediatr 2010, 169(8):941-949. 10.1007/s00431-010-1144-4, 20177701.
25. Sanlaville D, Prieur M, de Blois MC, Genevieve D, Lapierre JM, Ozilou C, Picq M, Gosset P, Morichon-Delvallez N, Munnich A, et al. Functional disomy of the Xq28 chromosome region. Eur J Hum Genet 2005, 13(5):579-585. 10.1038/sj.ejhg.5201384, 15741994.
26. Smyk M, Obersztyn E, Nowakowska B, Nawara M, Cheung SW, Mazurczak T, Stankiewicz P, Bocian E. 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 2008, 147B(6):799-806. 10.1002/ajmg.b.30683, 18165974.
27. Van Esch H, Bauters M, Ignatius J, Jansen M, Raynaud M, Hollanders K, Lugtenberg D, Bienvenu T, Jensen LR, Gecz 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(3):442-453. 10.1086/444549, 1226209, 16080119.
28. Velinov M, Novelli A, Gu H, Fenko M, Dolzhanskaya N, Bernardini L, Capalbo A, Dallapiccola B, Jenkins EC, Brown WT. De-novo 2.15 Mb terminal Xq duplication involving MECP2 but not L1CAM gene in a male patient with mental retardation. Clin Dysmorphol 2009, 18(1):9-12. 10.1097/MCD.0b013e3283157cad, 19090026.
29. Ramocki MB, Tavyev YJ, Peters SU. The MECP2 duplication syndrome. Am J Med Genet A 2010, 152A(5):1079-1088. 10.1002/ajmg.a.33184, 2861792, 20425814.
30. Chen RZ, Akbarian S, Tudor M, Jaenisch R. Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice. Nat Genet 2001, 27(3):327-331. 10.1038/85906, 11242118.
31. Collins AL, Levenson JM, Vilaythong AP, Richman R, Armstrong DL, Noebels JL, David Sweatt J, Zoghbi HY. Mild overexpression of MeCP2 causes a progressive neurological disorder in mice. Hum Mol Genet 2004, 13(21):2679-2689. 10.1093/hmg/ddh282, 15351775.
32. Guy J, Hendrich B, Holmes M, Martin JE, Bird A. A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome. Nat Genet 2001, 27(3):322-326. 10.1038/85899, 11242117.
33. 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(16):6033-6038. 10.1073/pnas.0401626101, 395918, 15069197.
34. Shahbazian M, Young J, Yuva-Paylor L, Spencer C, Antalffy B, Noebels J, Armstrong D, Paylor R, Zoghbi H. Mice with truncated MeCP2 recapitulate many Rett syndrome features and display hyperacetylation of histone H3. Neuron 2002, 35(2):243-254. 10.1016/S0896-6273(02)00768-7, 12160743.
35. Xi CY, Lu Y, Tan YH, Hua TY, Zhao YJ, Liu XM, Gao H. Analysis of MECP2 gene copy number in boys with autism. J Child Neurol 2011, 26(5):570-573. 10.1177/0883073810387138, 21531908.
36. Du R, Lu C, Jiang Z, Li S, Ma R, An H, Xu M, An Y, Xia Y, Jin L, et al. Efficient typing of copy number variations in a segmental duplication-mediated rearrangement hotspot using multiplex competitive amplification. J Hum Genet 2012,
37. Bailey A, Le Couteur A, Gottesman I, Bolton P, Simonoff E, Yuzda E, Rutter M. Autism as a strongly genetic disorder: evidence from a British twin study. Psychol Med 1995, 25(1):63-77. 10.1017/S0033291700028099, 7792363.
38. Association AP. Diagnostic and Statistical Manual of Mental Disorders 1994, American Psychiatric Association, Washington, DC.
39. Lord C, Rutter M, DiLavore PC, Risi S. Austism Diagnostic Observation Schedule 1999, Western Psychological Corporation, Los Angeles, CA.
40. Derogatis LR, Lipman RS, Covi L. SCL-90: an outpatient psychiatric rating scale-preliminary report. Psychopharmacol Bull 1973, 9(1):13-28.
41. Wang Z-Y. Symptom Checklist 90 (SCL90) in Chinese. Shanghai Archives of Psychiatry 1984, 02:68-70.
42. Gong YS. Wechsler Adult Intelligence Scale - Revised, in Chinese 1992, HNDTCBS, Changsha.
43. Wechsler D. Wechsler Adult Intelligence Scale - Revised 1981, Pscyhological Corporation, San Antonio, TX.
44. Hurley RS, Losh M, Parlier M, Reznick JS, Piven J. The broad autism phenotype questionnaire. J Autism Dev Disord 2007, 37(9):1679-1690. 10.1007/s10803-006-0299-3, 17146701.
45. Bucan M, Abrahams BS, Wang K, Glessner JT, Herman EI, Sonnenblick LI, Alvarez Retuerto AI, Imielinski M, Hadley D, Bradfield JP, et al. Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes. PLoS Genet 2009, 5(6):e1000536. 10.1371/journal.pgen.1000536, 2695001, 19557195.
46. Xu LM, Li JR, Huang Y, Zhao M, Tang X, Wei L. AutismKB: an evidence-based knowledgebase of autism genetics. Nucleic Acids Res 2012, 40(Database issue):D1016-1022. 3245106, 22139918.
47. Carvalho CM, Zhang F, Liu P, Patel A, Sahoo T, Bacino CA, Shaw C, Peacock S, Pursley A, Tavyev YJ, et al. Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching. Hum Mol Genet 2009, 18(12):2188-2203. 10.1093/hmg/ddp151, 2685756, 19324899.
48. Gottipati S, Rao NL, Fung-Leung WP. IRAK1: a critical signaling mediator of innate immunity. Cell Signal 2008, 20(2):269-276. 10.1016/j.cellsig.2007.08.009, 17890055.
49. Newmeyer A, de Grauw T, Clark J, Chuck G, Salomons G. Screening of male patients with autism spectrum disorder for creatine transporter deficiency. Neuropediatrics 2007, 38(6):310-312. 10.1055/s-2008-1065353, 18461508.
50. Poo-Arguelles P, Arias A, Vilaseca MA, Ribes A, Artuch R, Sans-Fito A, Moreno A, Jakobs C, Salomons G. X-Linked creatine transporter deficiency in two patients with severe mental retardation and autism. J Inherit Metab Dis 2006, 29(1):220-223. 10.1007/s10545-006-0212-4, 16601898.
51. Pizzarelli R, Cherubini E. Alterations of GABAergic signaling in autism spectrum disorders. Neural Plast 2011, 2011:297153. 3134996, 21766041.
52. Zoghbi HY, Bear MF. Synaptic dysfunction in neurodevelopmental disorders associated with autism and intellectual disabilities. Cold Spring Harb Perspect Biol 2012, 4:3.