Algorithmic approach for methyl-CpG binding protein 2 (MECP2) gene testing in patients with neurodevelopmental disabilities

Journal of Child Neurology

Volumn 27, Issue 3, 2012, Pages 346-354

  Sanmann, Jennifer N ^a   Schaefer, G Bradley ^b   Buehler, Bruce A ^a   Sanger, Warren G ^a  

^a UNIVERSITY OF NEBRASKA MEDICAL CENTER   (United States)

^b UNIVERSITY OF ARKANSAS FOR MEDICAL SCIENCES   (United States)

Author keywords

Angelman syndrome; deletion duplication; methyl CpG binding protein 2 (MECP2); neonatal encephalopathy; Rett syndrome

Indexed keywords

METHYL CPG BINDING PROTEIN 2;

AUTISM; BRAIN DISEASE; CEREBRAL PALSY; COGNITIVE DEFECT; COMMUNICATION SKILL; DEVELOPMENTAL DISORDER; FAMILY HISTORY; GENE DELETION; GENE DUPLICATION; GENE SEQUENCE; GENETIC SCREENING; HAPPY PUPPET SYNDROME; HUMAN; IN VIVO STUDY; MENTAL DEFICIENCY; MISSENSE MUTATION; MOTOR PERFORMANCE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN BINDING; PROTEIN DOMAIN; PROTEIN FUNCTION; PROTEIN LOCALIZATION; PROTEIN STRUCTURE; RESPIRATORY TRACT INFECTION; RETT SYNDROME; REVIEW;

ALGORITHMS; BRAIN DISEASES; CHROMOSOMES, HUMAN, PAIR 15; DEVELOPMENTAL DISABILITIES; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; HUMANS; MALE; METHYL-CPG-BINDING PROTEIN 2; MUTATION; SEX FACTORS;

EID: 84858658888     PISSN: 08830738     EISSN: 17088283     Source Type: Journal    
DOI: 10.1177/0883073811424796     Document Type: Review

References (122)

1. Ellison KA, Fill CP, Terwilliger J, et al. Examination of X chromosome markers in Rett syndrome: exclusion mapping with a novel variation on multilocus linkage analysis. Am J Hum Genet. 1992;50(2):278-287.
2. Schanen NC, Dahle EJ, Capozzoli F, et al. A new Rett syndrome family consistent with X-linked inheritance expands the X chromosome exclusion map. Am J Hum Genet. 1997;61(3):634-641. (Pubitemid 27418405)
3. Schanen C, Francke U. A severely affected male born into a Rett syndrome kindred supports X-linked inheritance and allows extension of the exclusion map. Am J Hum Genet. 1998;63(1):267-269. (Pubitemid 30428343)
4. Sirianni N, Naidu S, Pereira J, et al. Rett syndrome: confirmation of X-linked dominant inheritance, and localization of the gene to Xq28. Am J Hum Genet. 1998;63(5):1552-1558. (Pubitemid 30418554)
5. Mnatzakanian GN, Lohi H, Munteanu I, et al. A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome. Nat Genet. 2004;36(4):339-341. (Pubitemid 38437255)
6. Nan X, Meehan RR, Bird A. Dissection of the methyl-CpG binding domain from the chromosomal protein MeCP2. Nucleic Acids Res. 1993;21(21):4886-4892. (Pubitemid 23330162)
7. Wakefield RI, Smith BO, Nan X, et al. The solution structure of the domain from MeCP2 that binds to methylated DNA. J Mol Biol. 1999;291(5):1055- 1065. (Pubitemid 29423769)
8. Nan X, Campoy FJ, Bird A. MeCP2 is a transcriptional repressor with abundant binding sites in genomic chromatin. Cell. 1997;88(4):471-481. (Pubitemid 27154412)
9. Jones PL, Veenstra GJ, Wade PA, et al. Methylated DNA and MeCP2 recruit histone deacetylase to repress transcription. Nat Genet. 1998;19(2):187-191. (Pubitemid 28248804)
10. Lewis JD, Meehan RR, Henzel WJ, et al. Purification, sequence, and cellular localization of a novel chromosomal protein that binds to methylated DNA. Cell. 1992;69(6):905-914.
11. Nan X, Tate P, Li E, Bird A. DNA methylation specifies chromosomal localization of MeCP2. Mol Cell Biol. 1996;16(1):414-421. (Pubitemid 126506989)
12. Chandler SP, Guschin D, Landsberger N, Wolffe AP. The methyl- CpG binding transcriptional repressor MeCP2 stably associates with nucleosomal DNA. Biochemistry. 1999;38(22):7008-7018.
13. Jung BP, Jugloff DG, Zhang G, et al. The expression of methyl CpG binding factor MeCP2 correlates with cellular differentiation in the developing rat brain and in cultured cells. J Neurobiol. 2003;55(1):86-96. (Pubitemid 36396964)
14. Chen RZ, Akbarian S, Tudor M, Jaenisch R. Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rettlike phenotype in mice. Nat Genet. 2001;27(3):327-331. (Pubitemid 32201857)
15. Chen WG, Chang Q, Lin Y, et al. Derepression of BDNF transcription involves calcium-dependent phosphorylation of MeCP2. Science. 2003;302(5646):885-889. (Pubitemid 37339632)
16. Martinowich K, Hattori D, Wu H, et al. DNA methylation-related chromatin remodeling in activity-dependent BDNF gene regulation. Science. 2003;302(5646):890-893. (Pubitemid 37339633)
17. Zhou Z, Hong EJ, Cohen S, et al. Brain-specific phosphorylation of MeCP2 regulates activity-dependent bdnf transcription, dendritic growth, and spine maturation. Neuron. 2006;52(2):255-269. (Pubitemid 44548348)
18. Stancheva I, Collins AL, Van den Veyver IB, et al. A mutant form of MeCP2 protein associated with human Rett syndrome cannot be displaced from methylated DNA by notch in Xenopus embryos. Mol Cell. 2003;12(2):425-435. (Pubitemid 37238929)
19. Horike S, Cai S, Miyano M, et al. Loss of silent-chromatin looping and impaired imprinting of DLX5 in Rett syndrome. Nat Genet. 2005;37(1):31-40. (Pubitemid 40070937)
20. Peddada S, Yasui DH, LaSalle JM. Inhibitors of differentiation (ID1, ID2, ID3 and ID4) genes are neuronal targets of MeCP2 that are elevated in Rett syndrome. Hum Mol Genet. 2006;15(12):2003-2014. (Pubitemid 43983274)
21. Nuber UA, Kriaucionis S, Roloff TC, et al. Up-regulation of glucocorticoid-regulated genes in a mouse model of Rett syndrome. Hum Mol Genet. 2005;14(15):2247-2256. (Pubitemid 41418024)
22. Itoh M, Ide S, Takashima S, et al. Methyl CpG-binding protein 2 (a mutation of which causes Rett syndrome) directly regulates insulin-like growth factor binding protein 3 in mouse and human brains. J Neuropathol Exp Neurol. 2007;66(2):117-123. (Pubitemid 46208732)
23. Kriaucionis S, Paterson A, Curtis J, et al. Gene expression analysis exposes mitochondrial abnormalities in a mouse model of Rett syndrome. Mol Cell Biol. 2006;26(13):5033-5042. (Pubitemid 43955817)
24. Deng V, Matagne V, Banine F, et al. FXYD1 is an MeCP2 target gene overexpressed in the brains of Rett syndrome patients and Mecp2-null mice. Hum Mol Genet. 2007;16(6):640-650. (Pubitemid 46585665)
25. McGill BE, Bundle SF, Yaylaoglu MB, et al. Enhanced anxiety and stress-induced corticosterone release are associated with increased Crh expression in a mouse model of Rett syndrome. Proc Natl Acad Sci U S A. 2006;103(48):18267-18272. (Pubitemid 44871647)
26. Samaco RC, Hogart A, LaSalle JM. Epigenetic overlap in autism-spectrum neurodevelopmental disorders: MECP2 deficiency causes reduced expression of UBE3A and GABRB3. Hum Mol Genet. 2005;14(4):483-492. (Pubitemid 40277464)
27. Chahrour M, Zoghbi HY. The story of Rett syndrome: from clinic to neurobiology. Neuron. 2007;56(3):422-437. (Pubitemid 350026269)
28. Hagberg B. Rett's syndrome: prevalence and impact on progressive severe mental retardation in girls. Acta Paediatr Scand. 1985;74(3):405-408. (Pubitemid 15034481)
29. Imessaoudene B, Bonnefont JP, Royer G, et al. MECP2 mutation in non-fatal, non-progressive encephalopathy in a male. J Med Genet. 2001; 38(3):171-174. (Pubitemid 32250868)
30. Geerdink N, Rotteveel JJ, LammensM, et al.MECP2 mutation in a boy with severe neonatal encephalopathy: clinical, neuropathological and molecular findings. Neuropediatrics. 2002;33(1):33-36. (Pubitemid 34273035)
31. Armstrong J, Pineda M, Aibar E, et al. Classic Rett syndrome in a boy as a result of somatic mosaicism for a MECP2 mutation. Ann Neurol. 2001;50(5):692. (Pubitemid 33021934)
32. Budden SS, Dorsey HC, Steiner RD. Clinical profile of a male with Rett syndrome. Brain Dev. 2005;27(suppl 1):S69-S71. (Pubitemid 41501612)
33. Kankirawatana P, Leonard H, Ellaway C, et al. Early progressive encephalopathy in boys and MECP2 mutations. Neurology. 2006;67(1):164-166. (Pubitemid 44305487)
34. Leonard H, Silberstein J, Falk R, et al. Occurrence of Rett syndrome in boys. J Child Neurol. 2001;16(5):333-338. (Pubitemid 32547297)
35. Leuzzi V, Di Sabato ML, Zollino M, et al. Early-onset encephalopathy and cortical myoclonus in a boy with MECP2 gene mutation. Neurology. 2004;63(10):1968-1970. (Pubitemid 39532407)
36. Lundvall M, Samuelsson L, Kyllerman M. Male Rett phenotypes in T158M and R294X MeCP2-mutations. Neuropediatrics. 2006;37(5):296-301. (Pubitemid 46180810)
37. Masuyama T, Matsuo M, Jing JJ, et al. Classic Rett syndrome in a boy with R133C mutation of MECP2. Brain Dev. 2005;27(6):439-442. (Pubitemid 41188689)
38. Rett A. On a unusual brain atrophy syndrome in hyperammonemia in childhood. Wien Med Wochenschr. 1966;116(37):723-726.
39. Hagberg B, Aicardi J, Dias K, Ramos O. A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: report of 35 cases. Ann Neurol. 1983;14(4):471-479. (Pubitemid 13010048)
40. Trevathan E, Naidu S. The clinical recognition and differential diagnosis of Rett syndrome. J Child Neurol. 1988;3(suppl):S6-S16.
41. Hagberg B, Hanefeld F, Percy A, Skjeldal O. An update on clinically applicable diagnostic criteria in Rett syndrome: comments to Rett Syndrome Clinical Criteria Consensus Panel Satellite to European Paediatric Neurology Society Meeting, Baden Baden, Germany, 11 September 2001. Eur J Paediatr Neurol. 2002;6(5):293-297. (Pubitemid 36267302)
42. Amir RE, Van den Veyver IB, Wan M, et al. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl- CpG-binding protein 2. Nat Genet. 1999;23(2):185-188. (Pubitemid 29455390)
43. Bienvenu T, Carrie A, de Roux N, et al. MECP2 mutations account for most cases of typical forms of Rett syndrome. Hum Mol Genet. 2000;9(9):1377-1384. (Pubitemid 30312486)
44. Smeets E, Terhal P, Casaer P, et al. Rett syndrome in females with CTS hot spot deletions: a disorder profile. Am J Med Genet A. 2005;132(2):117-120. (Pubitemid 40093317)
45. Bourdon V, Philippe C, Labrune O, et al. A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients. Hum Genet. 2001;108(1):43-50. (Pubitemid 32140541)
46. Hampson K, Woods CG, Latif F, Webb T. Mutations in the MECP2 gene in a cohort of girls with Rett syndrome. J Med Genet. 2000;37(8):610-612. (Pubitemid 30604102)
47. Kammoun F, de Roux N, Boespflug-Tanguy O, et al. Screening of MECP2 coding sequence in patients with phenotypes of decreasing likelihood for Rett syndrome: a cohort of 171 cases. J Med Genet. 2004;41(6):e85.
48. Laccone F, Junemann I, Whatley S, et al. Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndrome. Hum Mutat. 2004;23(3):234-244. (Pubitemid 38337888)
49. Laccone F, Huppke P, Hanefeld F, Meins M. Mutation spectrum in patients with Rett syndrome in the German population: evidence of hot spot regions. Hum Mutat. 2001;17(3):183-190. (Pubitemid 32187049)
50. Miltenberger-Miltenyi G, Laccone F. Mutations and polymorphisms in the human methyl CpG-binding protein MECP2. Hum Mutat. 2003;22(2):107-115. (Pubitemid 36950807)
51. Xiang F, Buervenich S, Nicolao P, et al. Mutation screening in Rett syndrome patients. J Med Genet. 2000;37(4):250-255. (Pubitemid 30245929)
52. Obata K, Matsuishi T, Yamashita Y, et al. Mutation analysis of the methyl-CpG binding protein 2 gene (MECP2) in patients with Rett syndrome. J Med Genet. 2000;37(8):608-610. (Pubitemid 30604101)
53. Percy AK, Lane JB. Rett syndrome: clinical and molecular update. Curr Opin Pediatr. 2004;16(6):670-677. (Pubitemid 39552218)
54. Zappella M, Meloni I, Longo I, et al. Preserved speech variants of the Rett syndrome: molecular and clinical analysis. Am J Med Genet. 2001;104(1):14-22.
55. Klauck SM, Lindsay S, Beyer KS, et al. A mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndrome. Am J Hum Genet. 2002;70(4):1034-1037. (Pubitemid 34259321)
56. Yaron Y, Ben Zeev B, Shomrat R, et al. MECP2 mutations in Israel: implications for molecular analysis, genetic counseling, and prenatal diagnosis in Rett syndrome. Hum Mutat. 2002;20(4):323-324.
57. Schollen E, Smeets E, Deflem E, et al. Gross rearrangements in the MECP2 gene in three patients with Rett syndrome: implications for routine diagnosis of Rett syndrome. Hum Mutat. 2003;22(2):116-120. (Pubitemid 36950808)
58. Erlandson A, Samuelsson L, Hagberg B, et al. Multiplex ligationdependent probe amplification (MLPA) detects large deletions in the MECP2 gene of Swedish Rett syndrome patients. Genet Test. 2003;7(4):329-332. (Pubitemid 38199268)
59. 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. Hum Mutat. 2004;24(2):172-177. (Pubitemid 39006597)
60. Ravn K, Nielsen JB, Skjeldal OH, et al. Large genomic rearrangements in MECP2. Hum Mutat. 2005;25(3):324.
61. Huppke P, Ohlenbusch A, Brendel C, et al. Mutation analysis of the HDAC 1, 2, 8 and CDKL5 genes in Rett syndrome patients without mutations in MECP2. Am J Med Genet A. 2005;137(2):136-138. (Pubitemid 41262679)
62. Shi J, Shibayama A, Liu Q, et al. Detection of heterozygous deletions and duplications in the MECP2 gene in Rett syndrome by robust dosage PCR (RD-PCR). Hum Mutat. 2005;25(5):505.
63. Archer HL, Whatley SD, Evans JC, et al. Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients. J Med Genet. 2006;43(5):451-456.
64. Scala E, Longo I, Ottimo F, et al. MECP2 deletions and genotype-phenotype correlation in Rett syndrome. Am J Med Genet A. 2007;143(23):2775-2784. (Pubitemid 350228738)
65. Hardwick SA, Reuter K, Williamson SL, et al. Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male proband. Eur J Hum Genet. 2007;15(12):1218-1229. (Pubitemid 350143178)
66. Lachlan KL, Collinson MN, Sandford RO, et al. Functional disomy resulting from duplications of distal Xq in four unrelated patients. Hum Genet. 2004;115(5):399-408. (Pubitemid 39341714)
67. Chen CP, Lin CC, Li YC, et al. Primary ovarian failure in a mentally retarded woman with a de novo unbalanced X;autosome translocation. Fertil Steril. 2006;86(5):1514.e1-1514.e2.
68. Merhi ZO, Roberts JL, Awonuga AO. A case of 46,X,der(X) t(X;X)(q22.1;p11) Xq22.1→Xqter in a 12-year-old girl with premature ovarian failure. Gynecol Obstet Invest. 2007;63(3):137-139. (Pubitemid 46514799)
69. Portnoi MF, Aboura A, Tachdjian G, et al. Molecular cytogenetic studies of Xq critical regions in premature ovarian failure patients. Hum Reprod. 2006;21(9):2329-2334. (Pubitemid 44530607)
70. Prueitt RL, Chen H, Barnes RI, Zinn AR. Most X;autosome translocations associated with premature ovarian failure do not interrupt X-linked genes. Cytogenet Genome Res. 2002;97(1-2):32-38. (Pubitemid 37499876)
71. Rossetti F, Rizzolio F, Pramparo T, et al. A susceptibility gene for premature ovarian failure (POF) maps to proximal Xq28. Eur J Hum Genet. 2004;12(10):829-834. (Pubitemid 39406067)
72. Eggermann T, Meschede D, Schuler H, et al. Premature ovarian failure associated with a small terminal Xq deletion: narrowing the POF1 region down to Xq27.2/Xq27.3-qter. Clin Genet. 2005;67(5):434-437. (Pubitemid 40561495)
73. Armstrong DD. Rett syndrome neuropathology review 2000. Brain Dev. 2001;23(suppl 1):S72-S76.
74. Schwartzman JS, Bernardino A, Nishimura A, et al. Rett syndrome in a boy with a 47, XXY karyotype confirmed by a rare mutation in the MECP2 gene. Neuropediatrics. 2001;32(3):162-164. (Pubitemid 32747631)
75. Kleefstra T, Yntema HG, Nillesen WM, et al. MECP2 analysis in mentally retarded patients: implications for routine DNA diagnostics. Eur J Hum Genet. 2004;12(1):24-28. (Pubitemid 38180967)
76. WanM, Lee SS, Zhang X, et al. Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots. Am J Hum Genet. 1999;65(6):1520-1529. (Pubitemid 30468664)
77. Villard L, Kpebe A, Cardoso C, Chelly PJ, et al. Two affected boys in a Rett syndrome family: clinical and molecular findings. Neurology. 2000;55(8):1188-1193.
78. Zeev BB, Yaron Y, Schanen NC, et al. Rett syndrome: clinical manifestations in males with MECP2 mutations. J Child Neurol. 2002;17(1):20-24. (Pubitemid 34406881)
79. Hoffbuhr K, Devaney JM, LaFleur B, et al. MeCP2 mutations in children with and without the phenotype of Rett syndrome. Neurology. 2001;56(11):1486- 1495. (Pubitemid 32532260)
80. Ravn K, Nielsen JB, Uldall P, et al. No correlation between phenotype and genotype in boys with a truncating MECP2 mutation. J Med Genet. 2003;40(1):e5.
81. Clayton-Smith J, Watson P, Ramsden S, Black GC. Somatic mutation in MECP2 as a non-fatal neurodevelopmental disorder in males. Lancet. 2000;356(9232):830-832.
82. Topcu M, Akyerli C, Sayi A, et al. Somatic mosaicism for a MECP2 mutation associated with classic Rett syndrome in a boy. Eur J Hum Genet. 2002;10(1):77-81. (Pubitemid 34229054)
83. Dayer AG, Bottani A, Bouchardy I, et al. MECP2 mutant allele in a boy with Rett syndrome and his unaffected heterozygous mother. Brain Dev. 2007;29(1):47-50. (Pubitemid 46073552)
84. Meloni I, Bruttini M, Longo I, et al. A mutation in the Rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males. Am J Hum Genet. 2000;67(4):982-985.
85. Couvert P, Bienvenu T, Aquaviva C, et al. MECP2 is highly mutated in X-linked mental retardation. Hum Mol Genet. 2001;10(9):941-946. (Pubitemid 32401410)
86. Orrico A, Lam C, Galli L, et al. MECP2 mutation in male patients with non-specific X-linked mental retardation. FEBS Lett. 2000;481(3):285-288.
87. Jedele KB. The overlapping spectrum of Rett and Angelman syndromes: a clinical review. Semin Pediatr Neurol. 2007;14(3):108-117. (Pubitemid 350008072)
88. Watson P, Black G, Ramsden S, et al. Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein. J Med Genet. 2001;38(4):224-228. (Pubitemid 32324502)
89. Jiang Y, Lev-Lehman E, Bressler J, et al. Genetics of Angelman syndrome. Am J Hum Genet. 1999;65(1):1-6. (Pubitemid 30470441)
90. Yntema HG, Kleefstra T, Oudakker AR, et al. Low frequency of MECP2 mutations in mentally retarded males. Eur J Hum Genet. 2002;10(8):487-490.
91. Yntema HG, Oudakker AR, Kleefstra T, et al. In-frame deletion in MECP2 causes mild nonspecific mental retardation. Am J Med Genet. 2002;107(1):81-83. (Pubitemid 34003365)
92. Bourdon V, Philippe C, Martin D, et al. MECP2 mutations or polymorphisms in mentally retarded boys: diagnostic implications. Mol Diagn. 2003;7(1):3-7. (Pubitemid 37339027)
93. Harvey CG, Menon SD, Stachowiak B, et al. Sequence variants within exon 1 ofMECP2 occur in females with mental retardation. Am J Med Genet B Neuropsychiatr Genet. 2007;144(3):355-360. (Pubitemid 46642028)
94. Volkmar FR, PaulsD.Autism. Lancet. 2003;362(9390):1133-1141. (Pubitemid 37222341)
95. Lam CW, Yeung WL, Ko CH, et al. Spectrum of mutations in the MECP2 gene in patients with infantile autism and Rett syndrome. J Med Genet. 2000;37(12):E41.
96. Carney RM, Wolpert CM, Ravan SA, et al. Identification of MeCP2 mutations in a series of females with autistic disorder. Pediatr Neurol. 2003;28(3):205-211. (Pubitemid 36593431)
97. Zappella M, Meloni I, Longo I, et al. Study of MECP2 gene in Rett syndrome variants and autistic girls. Am J Med Genet B Neuropsychiatr Genet. 2003;119(1):102-107. (Pubitemid 37064061)
98. Shibayama A, Cook EH, Jr, Feng J, et al. MECP2 structural and 3′-UTR variants in schizophrenia, autism and other psychiatric diseases: a possible association with autism. Am J Med Genet B Neuropsychiatr Genet. 2004;128(1):50-53. (Pubitemid 38849918)
99. Coutinho AM, Oliveira G, Katz C, et al. MECP2 coding sequence and 30UTR variation in 172 unrelated autistic patients. Am J Med Genet B Neuropsychiatr Genet. 2007;144(4):475-483. (Pubitemid 46983158)
100. Abdul-Rahman OA, Hudgins L. The diagnostic utility of a genetics evaluation in children with pervasive developmental disorders. Genet Med. 2006;8(1):50-54.
101. Hughes I, Newton R. Genetic aspects of cerebral palsy. Dev Med Child Neurol. 1992;34(1):80-86.
102. Adler E. Familial cerebral palsy. J Chronic Dis. 1961;13:207-214.
103. Bundey S, Griffiths MI. Recurrence risks in families of children with symmetrical spasticity. Dev Med Child Neurol. 1977;19(2):179-191. (Pubitemid 8139953)
104. Petterson B, Stanley F, Henderson D. Cerebral palsy in multiple births in Western Australia: genetic aspects. Am J Med Genet. 1990;37(3):346-351. (Pubitemid 20367545)
105. Laplaza FJ, Root L, Tassanawipas A, Cervera P. Cerebral palsy in twins. Dev Med Child Neurol. 1992;34(12):1053-1063.
106. Fletcher NA, Foley J. Parental age, genetic mutation, and cerebral palsy. J Med Genet. 1993;30(1):44-46. (Pubitemid 23067557)
107. Mitchell S, Bundey S. Symmetry of neurological signs in Pakistani patients with probable inherited spastic cerebral palsy. Clin Genet. 1997;51(1):7-14. (Pubitemid 27116892)
108. Schaefer GB. Genetics considerations in cerebral palsy. Semin Pediatr Neurol. 2008;15(1):21-26. (Pubitemid 351374838)
109. Collins AL, Levenson JM, Vilaythong AP, et al. Mild overexpression of MeCP2 causes a progressive neurological disorder in mice. Hum Mol Genet. 2004;13(21):2679-2689. (Pubitemid 39485416)
110. del Gaudio D, Fang P, Scaglia F, et al. Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males. Genet Med. 2006;8(12):784-792. (Pubitemid 44973767)
111. 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(6):e1687-e1695.
112. 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(3):442-453. (Pubitemid 41192650)
113. Meins M, Lehmann J, Gerresheim F, et al. 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.
114. Lugtenberg D, de Brouwer AP, Kleefstra T, 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.
115. Sanlaville D, Prieur M, de Blois MC, et al. Functional disomy of the Xq28 chromosome region. Eur J Hum Genet. 2005;13(5):579-585. (Pubitemid 40703861)
116. Lahn BT, Ma N, Breg WR, et al. Xq-yq interchange resulting in supernormal X-linked gene expression in severely retarded males with 46,XYq-karyotype. Nat Genet. 1994;8(3):243-250.
117. Lammer EJ, Punglia DR, Fuchs AE, et al. Inherited duplication of Xq27.2→qter: phenocopy of infantile Prader-Willi syndrome. Clin Dysmorphol. 2001;10(2):141-144. (Pubitemid 32242879)
118. Goodman BK, Shaffer LG, Rutberg J, et al. Inherited duplication Xq27-qter at Xp22.3 in severely affected males: molecular cytogenetic evaluation and clinical description in three unrelated families. Am J Med Genet. 1998;80(4):377-384. (Pubitemid 28541603)
119. Akiyama M, Kawame H, Ohashi H, et al. Functional disomy for Xq26.3-qter in a boy with an unbalanced t(X;21)(q26.3;p11.2) translocation. Am J Med Genet. 2001;99(2):111-114. (Pubitemid 32204779)
120. Vasquez AI, Rivera H, Bobadilla L, Crolla JA. A familial xp+chromosome, dup (Xq26.3→qter). J Med Genet. 1995;32(11):891-893.
121. Kokalj-Vokac N, Marcun-Varda N, Zagorac A, et al. Subterminal deletion/duplication event in an affected male due to maternal X chromosome pericentric inversion. Eur J Pediatr. 2004;163(11):658-663. (Pubitemid 39517890)
122. Novelli A, Bernardini L, Salpietro DC, et al. Disomy of distal Xq in males: case report and overview. Am J Med Genet A. 2004;128(2):165-169. (Pubitemid 39162940)