Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: Novel mutations and polymorphisms

Journal of Human Genetics

Volumn 52, Issue 4, 2007, Pages 342-348

  Zahorakova, Daniela ^a   Rosipal, Robert ^a   Hadac, Jan ^b   Zumrova, Alena ^c   Bzduch, Vladimir ^d   Misovicova, Nadezda ^e   Baxova, Alice ^f   Zeman, Jiri ^a   Martasek, Pavel ^a  

^a CHARLES UNIVERSITY   (Czech Republic)

^b FAKULTNÍ THOMAYEROVA NEMOCNICE   (Czech Republic)

^c UNIVERSITY HOSPITAL MOTOL   (Czech Republic)

^d Children Hospital   (Slovakia)

^e Martinska Fakultna Nemocnica   (Slovakia)

^f CHARLES UNIVERSITY   (Czech Republic)

Author keywords

MECP2 gene; Mental retardation; MLPA; Mutation screening; Rett syndrome

Indexed keywords

DNA; METHYL CPG BINDING PROTEIN 2;

ARTICLE; CHROMOSOME INVERSION; CONFORMATION; CZECH REPUBLIC; DNA SEQUENCE; EXON; FEMALE; GEL ELECTROPHORESIS; GENE; GENE AMPLIFICATION; GENE DELETION; GENE MUTATION; GENETIC HETEROGENEITY; GENETIC POLYMORPHISM; HUMAN; INTRON; MAJOR CLINICAL STUDY; MUTATIONAL ANALYSIS; POINT MUTATION; POPULATION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; RESTRICTION SITE; RETT SYNDROME; SLOVAKIA; UKRAINE;

DNA MUTATIONAL ANALYSIS; EUROPE, EASTERN; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; HUMANS; METHYL-CPG-BINDING PROTEIN 2; MUTATION; POLYMORPHISM, GENETIC; RETT SYNDROME;

EID: 33947669763     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10038-007-0121-x     Document Type: Article

References (34)

1. Amir RE, Zoghbi HY (2000) Rett syndrome: methyl-CpG-binding protein 2 mutations and phenotype-genotype correlations. Am J Med Genet 97:147-152
2. Amir RE, Van den Veyver IB, Wan M, Tran CQ, Francke U, Zoghbi HY (1999) Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet 23:185-188
3. Amir RE, Fang P, Yu Z, Glaze DG, Percy AK, Zoghbi HY, Roa BB, Van den Veyver IB (2005) Mutations in exon 1 of MECP2 are a rare cause of Rett syndrome. J Med Genet 42:e15
4. Ballestar E, Yusufzai TM, Wolffe AP (2000) Effects of Rett syndrome mutations of the methyl-CpG binding domain of the transcriptional repressor MeCP2 on selectivity for association with methylated DNA. Biochemistry 39:7100-7106
5. Borg I, Freude K, Kubart S, Hoffmann K, Menzel C, Laccone F, Firth H, Ferguson-Smith MA, Tommerup N, Ropers HH, Sargan D, Kalscheuer VM (2005) Disruption of Negrin G1 by a balanced chromosome translocation in a girl with Rett syndrome. Eur J Hum Genet 13:921-927
6. Bourdon V, Philippe Ch, Labrune O, Amsallem D, Arnould C, Jonveaux P (2001) A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients. Hum Genet 108:43-50
7. Buyse IM, Fang P, Hoon KT, Amir RE, Zoghbi HY, Roa BB (2000) Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms. Am J Hum Genet 67:1428-1436
8. Cheadle JP, Gill H, Fleming N, Maynard J, Kerr A, Leonard H, Krawczak M, Cooper DN, Lynch S, Thomas N, Hughes H, Hulten M, Ravine D, Sampson JR, Clarke A (2000) Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location. Hum Mol Genet 9:1119-1129
9. Conforti FL, Mazzei R, Magariello A, Patitucci A, Gabriele AL, Muglia M, Quattrone A, Fiumara A, Barone R, Pavone L, Nistico R, Mangone L (2003) Mutation analysis of the MECP2 gene in patients with Rett syndrome. Am J Med Genet 117A:184-187
10. Couvert P, Bienvenu T, Aquaviva C, Poirier K, Moraine C, Gendrot C, Verloes A, Andres C, Le Fevre AC, Souville I, Steffann J, des Portes V, Ropers HH, Yntema HG, Fryns JP, Briault S, Chelly J, Cherif B (2001) MECP2 is highly mutated in X-linked mental retardation. Hum Mol Genet 10:941-946
11. De Bona C, Zappella M, Hayek G, Meloni I, Vitelli F, Bruttini M, Cusano R, Loffredo P, Longo I, Renieri A (2000) Preserved speech variant is allelic of classic Rett syndrome. Eur J Hum Genet 8:325-330
12. Erlandson A, Hallberg B, Hagberg B, Wahlstron J, Martinsson T (2001) MECP2 mutation screening in Swedish classical Rett syndrome females. Eur Child Adolesc Psychiatry 10:117-121
13. Evans JC, Archer H, Whatley SD, Kerr A, Clarke A, Butler R (2005) Variation in exon 1 coding region and promoter of MECP2 in Rett syndrome and controls. Eur J Hum Genet 13:124-126
14. Hagberg B (1995) Clinical delineation of Rett syndrome variants. Neuropediatrics 26:62
15. Hagberg B, Aicardi J, Dias K, Ramos O (1983) A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: report of 35 cases. Ann Neurol 14:471-479
16. Hoffbuhr K, Devaney JM, LaFleur B, Sirianni N, Scacheri C, Giron J, Schuette J, Innis J, Marino M, Philippart M, Narayanan V, Umansky R, Kronn D, Hoffman EP, Naidu S (2001) MeCP2 mutations in children with and without the phenotype of Rett syndrome. Neurology 56:1486-1495
17. Hoffbuhr KC, Moses LM, Jerdonek MA, Naidu S, Hoffman EP (2002) Associations between MECP2 mutations, X-chromosome inactivation, and phenotype. Ment Retard Dev Disabil Res Rev 8:99-105
18. Huppke P, Laccone F, Kramer N, Engel W, Hanefeld F (2000) Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients. Hum Mol Genet 9:1369-1375
19. Jones PL, Veenstra GJ, Wade PA, Wade PA, Vermaak D, Kass SU, Landsberger N, Strouboulis J, Wolffe AP (1998) Methylated DNA and MeCP2 recruit histone deacetylase to repress transcription. Nat Genet 19:187-191
20. Kerr AM, Nomura Y, Armstrong D, Anvret M, Belischenko PV, Budden S, Cass H, Christodoulou J, Clarke A, Ellaway C, d'Esposito M, Francke U, Hulten M, Julu P, Leonard H, Naidu S, Schanen C, Webb T, Engerstrom IW, Yamashita Y, Segawa M (2001) Guidelines for reporting clinical features in cases with MECP2 mutations. Brain Dev 23:208-211
21. Laccone F, Huppke P, Hanefeld F, Meins M (2001) Mutation spectrum in patients with Rett syndrome in the German population: evidence of hot spot regions. Hum Mutat 17:183-190
22. Laccone F, Junemann I, Whatley S, Morgan R, Butler R, Huppke P, Ravine D (2004) Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndrome. Hum Mutat 23:234-244
23. Mari F, Azimonti S, Bertani I, Bolognese F, Colombo E, Caselli R, Scala E, Longo I, Grosso S, Pescucci C, Ariani F, Hayek G, Balestri P, Bergo A, Badaracco G, Zapella M, Broccoli V, Renieri A, Kilstrup-Nielsen C, Landsberger N (2005) CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome. Hum Mol Genet 14:1935-1946
24. Mnatzakanian GN, Lohi H, Munteanu I, Alfred SE, Yamada T, MacLeod PJ, Jones JR, Scherer SW, Schanen NC, Friez MJ, Vincent JB, Minassian BA (2004) A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome. Nat Genet 36:339-341
25. Naidu S (1997) Rett syndrome: natural history and underlying disease mechanisms. Eur Child Adolesc Psychiatry 6(Suppl 1):14-17
26. Nan X, Ng HH, Johnson CA, Laherty CD, Turner BM, Eisenman RN, Bird A (1998) Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacetylase complex. Nature 393:386-389
27. Rett A (1966) Über ein eigenartiges hirnatrophisches Syndrom bei Hyperammonemie im Kindesalter. Wien Med Wochenschr 116:723-738
28. Shibayama A, Cook EH, Feng J, Glanzmann C, Yan J, Craddock N, Jones IR, Goldman D, Heston LL, Sommer SS (2004) MECP2 structural and 3′-UTR variants in schizophrenia, autism and other psychiatric diseases: a possible association with autism. Am J Med Genet Part B (Neuropsychiatr Genet) 128:50-53
29. Tao J, Van Esch H, Hegedorn-Greiwr M, Hoffmann K, Moser B, Raynaud M, Sperner J, Fryns JP, Schwinger E, Gecz J, Ropers HH, Kalscheuer VM (2004) Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation. Am J Hum Genet 75:1149-1154
30. Van den Veyver IB, Zoghbi HY (2000) Methyl-CpG-binding protein 2 mutations in Rett syndrome. Curr Opin Genet Dev 10:275-279
31. Wan M, Lee SS, Zhang X, Houwink-Manville I, Song HR, Amir RE, Budden S, Naidu S, Pereira JL, Lo IF, Zoghbi HY, Schanen NC, Francke U (1999) Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots. Am J Hum Genet 65:1520-1529
32. Weaving LS, Christodoulou J, Williamson SL, Friend KL, McKenzie OL, Archer H, Evans J, Clarke A, Pelka GJ, Tam PP, Watson C, Lahooti H, Ellaway CJ, Bennetts B, Leonard H, Gecz J (2004) Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation. Am J Hum Genet 75:1079-1093
33. Young JI, Hong EP, Castle JC, Crespo-Barreto J, Bowman AB, Rose MF, Kang D, Richman R, Johnson JM, Berget S, Zoghbi HY (2004) Regulation of RNA splicing by the methylation-dependent transcriptional repressor methyl-CpG binding protein 2. Proc Natl Acad Sci USA 102:17551-17558
34. Zeev BB, Yaron Y, Schanen NC, Wolf H, Brandt N, Ginot N, Shomrat R, Orr-Urtreger A (2002) Rett syndrome: clinical manifestations in males with MECP2 mutations. J Child Neurol 17:20-24