Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females

被引：0

作者：

Marcella Vacca

Francesco Filippini

Alberta Budillon

Valeria Rossi

Grazia Mercadante

Elisa Manzati

Francesca Gualandi

Stefania Bigoni

Cecilia Trabanelli

Giorgio Pini

Elisa Calzolari

Alessandra Ferlini

Ilaria Meloni

Giuseppe Hayek

Michele Zappella

Alessandra Renieri

Michele D'Urso

Maurizio D'Esposito

Fiona MacDonald

Alison Kerr

Seema Dhanjal

Maj Hultén

机构：

[1] International Institute of Genetics and Biophysics,

[2] CNR,undefined

[3] Via Marconi 10,undefined

[4] 80125,undefined

[5] Naples,undefined

[6] Italy,undefined

[7] Dipartimento di Biologia,undefined

[8] Università di Padova,undefined

[9] Italy,undefined

[10] Dipartimento di Medicina Sperimentale e Diagnostica,undefined

[11] Sezione di Genetica Medica,undefined

[12] Università di Ferrara,undefined

[13] Italy,undefined

[14] Servizio di Neuropsichiatria Infantile,undefined

[15] U.O.,undefined

[16] Viareggio,undefined

[17] Italy,undefined

[18] Neuropsichiatria Infantile,undefined

[19] Policlinico Le Scotte,undefined

[20] Siena,undefined

[21] Italy,undefined

[22] Genetica Medica,undefined

[23] Policlinico Le Scotte,undefined

[24] Università di Siena,undefined

[25] Italy,undefined

[26] Regional Genetic Services,undefined

[27] Birmingham Heartlands NHS Trust,undefined

[28] Birmingham,undefined

[29] UK,undefined

[30] Academic Centre,undefined

[31] Glasgow University,undefined

[32] Department of Psychological Medicine,undefined

[33] Gartnavel Royal Hospital,undefined

[34] 1055 Great Western Road,undefined

[35] Glasgow G12,undefined

[36] UK,undefined

[37] Present address: S. Dhanjal and M. Hultén,undefined

[38] Department of Biological Sciences,undefined

[39] University of Warwick,undefined

[40] Coventry CV4 7AL,undefined

[41] UK,undefined

[42] e-mail: MHulten@bio.warwick.ac.uk,undefined

[43] Tel.: +44-2476-528976,undefined

[44] Fax: +44-2476-572748,undefined

[45] Present address: Regional Genetic Services,undefined

[46] Birmingham Maternity Hospital NHS Trust,undefined

[47] Edgbaston,undefined

[48] Birmingham,undefined

[49] UK,undefined

来源：

Journal of Molecular Medicine | 2001年 / 78卷

关键词：

Bioinformatic analysis MECP2 mutation Rett syndrome Review X chromosome;

D O I：

暂无

中图分类号：

学科分类号：

摘要：

Rett syndrome is an X-linked dominant neurological disorder, which appears to be the commonest genetic cause of profound combined intellectual and physical disability in Caucasian females. Recently, this syndrome has been associated with mutations of the MECP2 gene, a transcriptional repressor of still unknown target genes. Here we report a detailed mutational analysis of 62 patients from UK and Italian archives, representing the first comparative study among different populations and one of the largest number of cases so far analyzed. We review the literature on MECP2 mutations in Rett syndrome. This analysis has permitted us to produce a map of the recurrent mutations identified in this and previous studies. Bioinformatic analysis of the mutations, taking advantage of structural and evolutionary data, leads us to postulate the existence of a new functional domain in the MeCP2 protein, which is conserved among brain-specific regulatory factors.

引用

页码：648 / 655

页数：7

共 50 条

[1] Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females
Vacca, M
Filippini, F
Budillon, A
Rossi, V
Mercadante, G
Manzati, E
Gualandi, F
Bigoni, S
Trabanelli, C
Pini, G
Calzolari, E
Ferlini, A
Meloni, I
Hayek, G
Zappella, M
Renieri, A
D'Urso, M
D'Esposito, M
MacDonald, F
Kerr, A
Dhanjal, S
Hultén, M
[J]. JOURNAL OF MOLECULAR MEDICINE-JMM, 2001, 78 (11): : 648 - +
[2] Mutation analysis of the MECP2 gene in Romanian females with Rett syndrome
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