Specific mutations in Methyl-CpG-Binding Protein 2 confer different severity in Rett syndrome

Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

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Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation.

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An update on clinically applicable diagnostic criteria in Rett syndrome

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Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes

Amir, R. E., den Veyver, I. B. V., Schultz, R., Malicki, D. M., Tran, C. Q., Dahle, E. J., Philippi, A., Tímár, L., Percy, A. K., Motil, K. J., et al. (2000) · Annals of Neurology · doi:10.1002/1531-8249(200005)47:5 · Cited by 351

Rett syndrome in Australia: A review of the epidemiology

Laurvick, C. L., de Klerk, N. H., Bower, C. I., Christodoulou, J., Ravine, D., Ellaway, C., Williamson, S. L., & Leonard, H. (2006) · The Journal of Pediatrics · doi:10.1016/j.jpeds.2005.10.037 · Cited by 345

Williams syndrome: From genotype through to the cognitive phenotype

Donnai, D., & Karmiloff‐Smith, A. (2000) · American Journal of Medical Genetics · doi:10.1002/1096-8628(200022)97:2 · Cited by 314

MECP2 mutations account for most cases of typical forms of Rett syndrome

Bienvenu, T. (2000) · Human Molecular Genetics · doi:10.1093/hmg/9.9.1377 · Cited by 303

Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location

Cheadle, J. P. (2000) · Human Molecular Genetics · doi:10.1093/hmg/9.7.1119 · Cited by 288

MECP2 is highly mutated in X-linked mental retardation

Couvert, P. (2001) · Human Molecular Genetics · doi:10.1093/hmg/10.9.941 · Cited by 272

Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients

Huppke, P. (2000) · Human Molecular Genetics · doi:10.1093/hmg/9.9.1369 · Cited by 246

Identification of MeCP2 mutations in a series of females with autistic disorder

Carney, R. M., Wolpert, C. M., Ravan, S. A., Shahbazian, M. D., Ashley‐Koch, A. E., Cuccaro, M. L., Vance, J. M., & Pericak‐Vance, M. A. (2003) · Pediatric Neurology · doi:10.1016/s0887-8994(02)00624-0 · Cited by 237

Angelman syndrome phenotype associated with mutations inMECP2, a gene encoding a methyl CpG binding protein

Watson, P., Black, G. C. M., Ramsden, S., Barrow, M., Super, M., Kerr, B. A., & Clayton‐Smith, J. (2001) · Journal of Medical Genetics · doi:10.1136/jmg.38.4.224 · Cited by 213

Rett Syndrome: A Prototypical Neurodevelopmental Disorder

Neul, J. L., & Zoghbi, H. Y. (2004) · The Neuroscientist · doi:10.1177/1073858403260995 · Cited by 171

Diagnostic Testing for Rett Syndrome by DHPLC and Direct Sequencing Analysis of the MECP2 Gene: Identification of Several Novel Mutations and Polymorphisms

Buyse, I. M., Fang, P., Hoon, K. T., Amir, R. E., Zoghbi, H. Y., & Roa, B. B. (2000) · The American Journal of Human Genetics · doi:10.1086/316913 · Cited by 167

Neurophysiology of Rett Syndrome

Glaze, D. G. (2005) · Journal of Child Neurology · doi:10.1177/08830738050200090801 · Cited by 144

MECP2 structural and 3′‐UTR variants in schizophrenia, autism and other psychiatric diseases: A possible association with autism

Shibayama, A., Cook, E. H., Feng, J., Glanzmann, C., Jin, Y., Craddock, N. J., Jones, I. R., Goldman, D. A., Heston, L. L., & Sommer, S. S. (2004) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.30016 · Cited by 143

Preserved speech variants of the Rett syndrome: Molecular and clinical analysis

Zappella, M., Meloni, I., Longo, I., Hayek, G., & Renieri, A. (2001) · American Journal of Medical Genetics · doi:10.1002/ajmg.10005 · Cited by 140

Preserved speech variant is allelic of classic Rett syndrome

Bona, C. D., Zappella, M., Hayek, G., Meloni, I., Vitelli, F., Bruttini, M., Cusano, R., Loffredo, P., Longo, I., & Renieri, A. (2000) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5200473 · Cited by 126

Phenotypic manifestations of MECP2 mutations in classical and atypical rett syndrome

Schanen, C., Houwink, E. J. F., Dorrani, N., Lane, J. B., Everett, R., Feng, A., Cantor, R. M., & Percy, A. K. (2003) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.20571 · Cited by 124

Correlation between clinical severity in patients with Rett syndrome with a p.R168X or p.T158M MECP2 mutation, and the direction and degree of skewing of X-chromosome inactivation

Archer, H. L., Evans, J., Leonard, H., Colvin, L., Ravine, D., Christodoulou, J., Williamson, S. L., Charman, T., Bailey, M. E. S., Sampson, J. R., et al. (2006) · Journal of Medical Genetics · doi:10.1136/jmg.2006.045260 · Cited by 110

Investigation of UBE3A and MECP2 in Angelman syndrome (AS) and patients with features of AS

Hitchins, M. P., Rickard, S., Dhalla, F., Vries, B. B. A. D., Winter, R. M., Pembrey, M. E., & Malcolm, S. (2003) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.20343 · Cited by 107

Heterogeneity in residual function of MeCP2 carrying missense mutations in the methyl CpG binding domain

Kudo, S., Nomura, Y., Segawa, M., Fujita, N., Nakao, M., Schanen, C., & Tamura, M. (2003) · Journal of Medical Genetics · doi:10.1136/jmg.40.7.487 · Cited by 92

Patients with the R133C mutation: is their phenotype different from patients with Rett syndrome with other mutations?

Leonard, H., Colvin, L., Christodoulou, J., Schiavello, T., Williamson, S., Davis, M., Ravine, D., Fyfe, S., de Klerk, N. H., Matsuishi, T., et al. (2003) · Journal of Medical Genetics · doi:10.1136/jmg.40.5.e52 · Cited by 89

Influence of Mutation Type and Location on Phenotype in 123 Patients with Rett Syndrome

Huppke, P., Held, M., Hanefeld, F. A., Engel, W., & Laccone, F. A. (2002) · Neuropediatrics · doi:10.1055/s-2002-32365 · Cited by 89

Study of MECP2 gene in Rett syndrome variants and autistic girls

Zappella, M., Meloni, I., Longo, I., Canitano, R., Hayek, G., Rosaia, L., Mari, F., & Renieri, A. (2003) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.10070 · Cited by 87

Rett syndrome in Spain: mutation analysis and clinical correlations

Monrós, E., Morón, J. A., Aibar, E., Póo, P., Canós, I., & Pineda, M. (2001) · Brain and Development · doi:10.1016/s0387-7604(01)00374-6 · Cited by 85

Rett syndrome in females with CTS hot spot deletions: A disorder profile

Smeets, E., Terhal, P. A., Casaer, P., Peters, A., Midro, A. T., Schollen, E., van Roozendaal, K. E. P., Moog, U., Matthijs, G., Herbergs, J. P. J., et al. (2004) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.30410 · Cited by 84

Features of Autism in Rett Syndrome and Severe Mental Retardation

Mount, R. H., Charman, T., Hastings, R. P., Reilly, S., & Cass, H. (2003) · Journal of Autism and Developmental Disorders · doi:10.1023/a:1025066913283 · Cited by 79

MECP2 mutations in Danish patients with Rett syndrome: High frequency of mutations but no consistent correlations with clinical severity or with the X chromosome inactivation pattern

Nielsen, J. B., Henriksen, K. F., Hansen, C., Silahtaroglu, A., Schwartz, M., & Tommerup, N. (2001) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5200600 · Cited by 71

Functional analyses of MeCP2 mutations associated with Rett syndrome using transient expression systems

Kudo, S., Nomura, Y., Segawa, M., Fujita, N., Nakao, M., Dragich, J. M., Schanen, C., & Tamura, M. (2001) · Brain and Development · doi:10.1016/s0387-7604(01)00345-x · Cited by 60

Mutations in exon 1 of MECP2 are a rare cause of Rett syndrome

Amir, R. E., Fang, P., Yu, Z., Glaze, D. G., Percy, A. K., Zoghbi, H. Y., Roa, B. B., & den Veyver, I. B. V. (2005) · Journal of Medical Genetics · doi:10.1136/jmg.2004.026161 · Cited by 57

Rett syndrome in adolescent and adult females: Clinical and molecular genetic findings

Smeets, E., Schollen, E., Moog, U., Matthijs, G., Herbergs, J. P. J., Smeets, H. J. M., Curfs, L., Schrander-Stumpel, C. T. R. M., & Fryns, J. P. (2003) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.20321 · Cited by 56

MECP2 analysis in mentally retarded patients: implications for routine DNA diagnostics

Kleefstra, T., Yntema, H. G., Nillesen, W. M., Oudakker, A. R., Mullaart, R. A., Geerdink, N., van Bokhoven, H., Vries, B. B. A. D., Sistermans, E. A., & Hamel, B. C. J. (2003) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5201080 · Cited by 46

Mutation analysis of the methyl-CpG-binding protein 2 gene (MECP2) in Rett patients with preserved speech

Yamashita, Y., Kondo, I., Fukuda, T., Morishima, R., Kusaga, A., Iwanaga, R., & Matsuishi, T. (2001) · Brain and Development · doi:10.1016/s0387-7604(01)00378-3 · Cited by 34

Mutation Analysis of MECP2 and Clinical Characterization in Korean Patients With Rett Syndrome

Chae, J., Hwang, Y. S., & Kim, K. J. (2002) · Journal of Child Neurology · doi:10.1177/088307380201700108 · Cited by 31

Molecular analysis of Japanese patients with Rett syndrome: Identification of five novel mutations and genotype-phenotype correlation

Yamada, Y., Miura, K., Kumagai, T., Hayakawa, C., Miyazaki, S., Matsumoto, A., Kurosawa, K., Nomura, N., Taniguchi, H., Sonta, S., et al. (2001) · Human Mutation · doi:10.1002/humu.1186 · Cited by 23

A 10-year-old boy with Marfan syndrome exhibiting cerebrovascular abnormalities

Kondo, M., Itoh, S., Nagano, K., Namba, M., Kondo, M., Imai, T., & Onishi, S. (2001) · Brain and Development · doi:10.1016/s0387-7604(01)00203-0 · Cited by 22

Spectrum and distribution of MECP2 mutations in 64 Italian Rett syndrome girls: tentative genotype/phenotype correlation

Giunti, L., Pelagatti, S., Lazzerini, V., Guarducci, S., Lapi, E., Coviello, S., Cecconi, A., Ombroni, L., Andreucci, E., Sani, I., et al. (2001) · Brain and Development · doi:10.1016/s0387-7604(01)00342-4 · Cited by 20

Rett syndrome: Revised diagnostic criteria and nomenclature

Neul, J. L., Kaufmann, W. E., Glaze, D. G., Christodoulou, J., Clarke, A. J., Bahi‐Buisson, N., Leonard, H., Bailey, M. E. S., Schanen, N. C., Zappella, M., et al. (2010) · Annals of Neurology · doi:10.1002/ana.22124 · Cited by 1,437

The Story of Rett Syndrome: From Clinic to Neurobiology

Chahrour, M., & Zoghbi, H. Y. (2007) · Neuron · doi:10.1016/j.neuron.2007.10.001 · Cited by 1,265

Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes

Chao, H.-T., Chen, H., Samaco, R. C., Xue, M., Chahrour, M., Yoo, J., Neul, J. L., Gong, S., Lu, H.-C., Heintz, N., et al. (2010) · Nature · doi:10.1038/nature09582 · Cited by 1,168

Synaptic Dysfunction in Neurodevelopmental Disorders Associated with Autism and Intellectual Disabilities

Zoghbi, H. Y., & Bear, M. F. (2012) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a009886 · Cited by 797

Rett syndrome: a complex disorder with simple roots

Lyst, M. J., & Bird, A. (2015) · Nature Reviews Genetics · doi:10.1038/nrg3897 · Cited by 353

Methyl-CpG-binding protein 2 ( MECP2 ) mutation type is associated with disease severity in Rett syndrome

Cuddapah, V. A., Pillai, R. B., Shekar, K. V., Lane, J. B., Motil, K. J., Skinner, S. A., Tarquinio, D. C., Glaze, D. G., McGwin, G., Kaufmann, W. E., et al. (2014) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2013-102113 · Cited by 311

Patients with the R133C mutation: is their phenotype different from patients with Rett syndrome with other mutations?

Leonard, H., Colvin, L., Christodoulou, J., Schiavello, T., Williamson, S., Davis, M., Ravine, D., Fyfe, S., de Klerk, N. H., Matsuishi, T., et al. (2003) · Journal of Medical Genetics · doi:10.1136/jmg.40.5.e52 · Cited by 89

MECP2 mutations in Danish patients with Rett syndrome: High frequency of mutations but no consistent correlations with clinical severity or with the X chromosome inactivation pattern

Nielsen, J. B., Henriksen, K. F., Hansen, C., Silahtaroglu, A., Schwartz, M., & Tommerup, N. (2001) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5200600 · Cited by 71

Classic Rett syndrome in a boy with R133C mutation of MECP2

Masuyama, T., Matsuo, M., Jing, J. J., Tabara, Y., Kitsuki, K., Yamagata, H. D., Kan, Y., Miki, T., Ishii, K., & Kondo, I. (2005) · Brain and Development · doi:10.1016/j.braindev.2004.10.002 · Cited by 38

PP04.16 – 3030: Phenotypic variability with the same MECP2 mutations – An analysis of the Romanian Rett database

Cristina, A., Dana, C., Niculina, B., Rodica, G., Monika, G., Dorota, H.-Z., Cristina, M., Oana, T.-A., & Albena, T. (2015) · European Journal of Paediatric Neurology · doi:10.1016/s1090-3798(15)30149-5 · Cited by 1