Title of article
MECP2 gene mutation analysis in the British and Italian Rett Syndrome patients: hot spot map of the most recurrent mutations and bioinformatic analysis of a new MECP2 conserved region
Author/Authors
Marcella Vacca، نويسنده , , Francesco Filippini، نويسنده , , Alberta Budillon، نويسنده , , Valeria Rossi، نويسنده , , Floriana Della Ragione، نويسنده , , Maria Luigia De Bonis، نويسنده , , Grazia Mercadante، نويسنده , , Elisa Manzati، نويسنده , , Francesca Gualandi، نويسنده , , Stefania Bigoni، نويسنده , , Cecilia Trabanelli، نويسنده , , GIORGIO PINI، نويسنده , , Elisa Calzolari، نويسنده , , Alessandra Ferlini، نويسنده , , Ilaria Meloni، نويسنده , , Giuseppe Hayek، نويسنده , , Michele Zappella، نويسنده , , Alessandra Renieri، نويسنده , , Michele DʹUrso، نويسنده , , Maurizio DʹEsposito، نويسنده , , et al.، نويسنده ,
Issue Information
روزنامه با شماره پیاپی سال 2001
Pages
5
From page
246
To page
250
Abstract
Rett syndrome (RTT) is an X-linked dominant neurological disorder, which appears to be the most common genetic cause of profound combined intellectual and physical disability in Caucasian females. This syndrome has been associated with mutations of the MECP2 gene, a transcriptional repressor of unknown target genes. We report a detailed mutational analysis of a large cohort of RTT patients from the UK and Italy. This study has permitted us to produce a hot spot map of the mutations identified. 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, conserved among brain-specific regulatory factors
Keywords
Rett syndrome , mutation analysis , Fork head , Recurrent mutations , bioinformatics , MeCP2
Journal title
Brain and Development
Serial Year
2001
Journal title
Brain and Development
Record number
494335
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