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

被引：49

作者：

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

机构：

[1] Birmingham Heartlands NHS Trust, Reg Genet Serv, Birmingham, W Midlands, England

[2] Univ Glasgow, Acad Ctr, Gartnavel Royal Hosp, Dept Psychol Med, Coventry G12, W Midlands, England

[3] Univ Siena, Policlin Le Scotte, I-53100 Siena, Italy

[4] UO, Serv Neuropsichiat Infantile, Viareggio, Italy

[5] Univ Ferrara, Sez Genet Med, Dipartimento Med Sperimentale & Diagnost, I-44100 Ferrara, Italy

[6] Univ Padua, Dipartimento Biol, I-35100 Padua, Italy

[7] CNR, Int Inst Genet & Biophys, I-80125 Naples, Italy

来源：

JOURNAL OF MOLECULAR MEDICINE-JMM | 2001年 / 78卷 / 11期

关键词：

bioinformatic analysis; MECP2; mutation; Rett syndrome; review; X chromosome;

D O I：

10.1007/s001090000155

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

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 syn drome 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 among brain-specific regulatory factors.

引用

页码：648 / +

页数：9

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