REFERENCES
1. Amir RE, Van den veyver IB, Wan M, Tran CQ, Francke U, et al. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG –binding protein 2. Nat Genet 1999;23:185-8.
2. Ehrhart F, Coort SL, Cirillo E, Smeets E, Evelo CT, et al. Rett syndrome - biological pathways leading from MECP2 to disorder phenotypes. Orphanet J Rare Dis 2016;11:158.
3. Neul JL, Fang P, Barrish J, Lane J, Caeg EB, et al. Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome. Neurology 2008;70:1313-21.
4. Neul JL, Kaufmann WE, Glaze DG, Christodoulou J, Clarke AJ, et al. Rett syndrome: revised diagnostic criteria and nomenclature. Ann Neurol 2010;68:944-50.
5. Percy AK, Neul JL, Glaze DG, Motil KJ, Skinner SA, et al. Rett syndrome diagnostic criteria: lessons from the Natural History Study. Ann Neurol 2010;68:951-5.
6. Hardwick SA, Reuter K, Williamson SL, Vasudevan V, Donald J, 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;15:1218-29.
7. Philippe C, Villard L, De Roux N, Raynaud M, Bonnefond JP, et al. Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update. Eur J Med Genet 2006;49:9-18.
8. Das DK, Raha S, Sanghavi D, Maitra A, Udani V. Spectrum of MECP2 gene mutations in a cohort of Indian patients with Rett syndrome: report of two novel mutations. Gene 2013;515:78-83.
9. Lallar M, Rai A, Srivastava P, Mandal K, Gupta N, et al. Molecular testing of MECP2 gene in rett syndrome phenotypes in Indian girls. Indian Pediatr 2018;55:474-7.
10. den Dunnen JT, Antonarakis SE. Nomenclature for the description of human sequence variations. Hum Genet 2001;109:121-4.
11. Christodoulou J, Grimm A, Maher T, Bennetts B. RettBASE: the IRSA MECP2 variation database-a new mutation database in evolution. Hum Mutat 2003;21:466-72.
12. Wan M, Lee SS, Zhang X, Houwink-Manville I, Song HR, et al. Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots. Am J Hum Genet 1999;65:1520-9.
13. Erlandson A, Samuelsson L, Hagberg B, Kyllerman M, Vujic M, et al. Multiplex ligation-dependent probe amplification (MLPA) detects large deletions in the MECP2 gene of Swedish Rett syndrome patients. Genet Test 2003;7:329-32.
14. Archer HL, Whatley SD, Evans JC, Ravine D, Huppke P, et al. Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients. J Med Genet 2006;43:451-6.
15. Khajuria R, Sapra S, Ghosh M, Gupta N, Gulati S, et al. Rapid detection of deletions in hotspot C-terminal segment region of MECP2 by routine PCR method: report of two classical Rett syndrome patients of Indian origin. Genet Test Mol Biomarkers 2009;13:277-80.
16. Bebbington A, Anderson A, Ravine D, Fyfe S, Pineda M, et al. Investigating genotype-phenotype relationships in Rett syndrome using an international data set. Neurology 2008;70:868-75.
17. Smeets E, Terhal P, Casaer P, Peters A, Midro A, et al. Rett syndrome in females with CTS hot spot deletions: a disorder profile. Am J Med Genet A 2005;132A:117-20.
18. Charman T, Neilson TC, Mash V, Archer H, Gardiner MT, et al. Dimensional phenotypic analysis and functional categorisation of mutations reveal novel genotype-phenotype associations in Rett syndrome. Eur J Hum Genet 2005;13:1121-30.
19. Yamada Y, Miura K, Kumagai T, Hayakawa C, Miyazaki S, et al. Molecular analysis of Japanese patients with Rett syndrome: Identification of five novel mutations and genotype-phenotype correlation. Hum Mutat 2001;18:253.
20. Pan H, Wang YP, Bao XH, Meng HD, Zhang Y, et al. MECP2 gene mutation analysis in Chinese patients with Rett syndrome. Eur J Hum Genet 2002;10:484-6.
21. Fukuda T, Yamashita Y, Nagamitsu S, Miyamoto K, Jin JJ, et al. Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms. Brain Dev 2005;27:211-7.
22. Kim IJ, Kim YJ, Son BH, Nam SO, Kang HC, et al. Diagnostic mutational analysis of MECP2 in Korean patients with Rett syndrome. Exp Mol Med 2006;38:119-25.
23. Wong VC, Li SY. Rett syndrome: prevalence among Chinese and a comparison of MECP2 mutations of classic Rett syndrome with other neurodevelopmental disorders. J Child Neurol 2007;22:1397-400.
24. Gauthier J, de Amorim G, Mnatzakanian GN, Saunders C, Vincent JB, et al. Clinical stringency greatly improves mutation detection in Rett syndrome. Can J Neurol Sci 2005;32:321-6.
25. Khajuria R, Gupta N, Sapra S, Gulati S, Ghosh M, et al. Novel non-identical MECP2 mutations in Rett syndrome family: a rare presentation. Brain Dev 2012;34:28-31.
26. Yusufzai TM, Wolffe AP. Functional consequences of Rett syndrome mutations on human MeCP2. Nucleic Acids Res 2000;28:4172-9.
27. Weaving LS, Williamson SL, Bennetts B, Davis M, Ellaway CJ, et al. Effects of MECP2 mutation type, location and X-inactivation in modulating Rett syndrome phenotype. Am J Med Genet A 2003;118A:103-14.
28. Colvin L, Leonard H, de Klerk N, Davis M, Weaving L, et al. Refining the phenotype of common mutations in Rett syndrome. J Med Genet 2004;41:25-30.
29. Leonard H, Moore H, Carey M, Fyfe S, Hall S, et al. Genotype and early development in Rett syndrome: the value of international data. Brain Dev 2005;27:S59-68.
30. Robertson L, Hall SE, Jacoby P, Ellaway C, de Klerk N, et al. The association between behavior and genotype in Rett syndrome using the Australian Rett Syndrome Database. Am J Med Genet B Neuropsychiatr Genet 2006;141B:177-83.
31. Halbach NSJ, Smeets EEJ, van den Braak N, van Roozendaal KE, Blok RM, et al. Genotype-phenotype relationships as prognosticators in Rett syndrome should be handled with care in clinical practice. Am J Med Genet A 2012;158A:340-50.