Balkan Journal of Medical Genetics

CLINICAL AND MOLECULAR DATA ON MENTAL RETARDATION IN BULGARIA
Todorov T1#, Todorova A1#, Avdjieva D2, Dimova P3, Angelova L4, Tincheva R2 and Mitev V1
*Corresponding Author: Tihomir Todorov, Department of Medical Chemistry and Biochemistry, Sofia Medical University, 2 “Zdrave” str., Sofia 1431, Bulgaria; Tel./Fax: +359 29530715; tisho.todorov@abv.bg
page: 11

REFERENCES

1. Fu YH, Kuhl DP, Pizzuti A, Pieretti M, Sutcliffe J, Richards S, Verkert A, Holden J, Fenwick R, Warren S, Oostra B, Nelson D, Caskey C. Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox. Cell. 1991; 67(6): 1047-1058. 2. Jin P, Warren ST. Understanding the molecular basis of fragile X syndrome. Hum Mol Genet. 2000; 9(6): 901-908. 3. Ravn K, Nielsen JB, Skjeldal OH, Kerr A, Hulten M, Schwartz M. Large genomic rearrangements in MECP2. Hum Mut. 2005; 25(3): 324-329. 4. Hardwick SA, Reuter K, Williamson SL, Vasudevan V, Donald J, Slater K, Bennetts B, Bebbington A, Leonard H, Williams SR, Smith RL, Cloosterman D, Christodoulou J. 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. 5. Archer HL, Evans J, Edwards S, Colley J, Newbury-Ecob R, O’Callaghan F, Huyton M, O’Regan M, Tolmie J, Sampson J, Clarke A, Osborne J. CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients. J Med Genet. 2006; 43(9): 729-734. 6. Stromme P, Mangelsdorf ME, Shaw MA, Lower KM, Lewis SME, Bruyere H, Lütcherath V, Gedeon AK, Wallace RH, Scheffer IE, Turner G, Partington M, Frints SGM, Fryns J-P, Sutherland GR, Mulley JC, Gécz J. Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy. Nat Genet. 2002; 30(4): 441-445. 7. Mandel J-L and Chelly J. Monogenic X-linked mental retardation: is it as frequent as currently estimated? The paradox of the ARX (Aristaless X) mutations. Eur J Hum Genet. 2004; 12(9): 689-693. 8. Zeschnigk M, Schmitz B, Dittrich B, Buiting K, Horsthemke B, Doerfler W. Imprinted segments in the human genome: different DNA methylation patterns in the Prader-Willi/Angelman syndrome region as determined by the genomic sequencing method. Hum Mol Genet. 1997; 6(3): 387-395. 9. Todorov T, Todorova A, Avdjieva D, Dimova P, Angelova L, Tincheva R, Mitev V. Molecular basis of mental retardation in a sample from Bulgaria. Genet Couns. 2010; 21(2): 257-262. 10. Todorov T, Todorova A, Kirov A, Dimitrov B, Carvalho R, Nygren AOH, Boneva I, Mitev V. Fragile X mosaic male full mutation/normal allele detected by PCR/MS-MLPA. BMJ Case Reports 2009; [doi:10.1136/bcr.06. 2008.0139]. 11. Todorov T, Todorova A, Georgieva B., Mitev V. A unified rapid PCR method for detection of normal and expanded trinucleotide alleles of CAG repeats in Huntington chorea and CGG repeats in Fragile X syndrome. Mol Biotechnol. 2010; 45(2): 150-154. 12. Amir RE, Van den Veyver IB, Wan M, Tran ChO, 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. 13. Kato M, Das S, Petras K, Kitamura K, Morohashi K, Abuelo DN, Barr M, Bonneau D, Brady AF, Carpenter NJ, Cipero KL, Frisone F,Fukuda T, Guerrini R, Iida E, Itoh M, Lewanda AF, Nanba Y, Oka A, Proud VK, Saugier-Veber P, Schelley SL, Selicorni A, Shaner R, Silengo M, Stewart F, Sugiyama N, Toyama J, Toutain A, Vargas AL, Yanazawa M, Zackai EH, Dobyns WB. Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation. Hum Mut. 2004; 23(2): 147-159. 14. MRC-Holland (www.mlpa.com). 15. Kosaki K, McGinniss MJ, Veraksa AN, McGinnis WJ, Jones KL. Prader-Willi and Angelman syndromes: diagnosis with a bisulfatetreated methylation-specific PCR method. Am J Med Genet. 1997; 73(3): 308-313. 16. Chaste P, Nygren G, Anckarsäter H , Råstam M, Coleman M, Leboyer M, Gillberg Ch, Betancur C. Mutation screening of the ARX gene in patients with autism. Am J Med Genet B Neuropsychiatr Genet. 2007; 144B(2): 228-230. 17. Kleefstra T, Yntema HG, Oudakker AR, Romein T, Sistermans E, Nillessen W,van Bokhoven H, de Vries BBA, Hamel BCJ. De novo MECP2 frameshift mutations in a boy with moderate mental retardation, obesity and gynaecomastia. Clin Genet. 2002; 61(5): 359-362. 18. International Rett Syndrome Foundation (IRSF) MECP2 Variation Database (www.mecp2. chw.edu.au).

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