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 ,
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
