A MECP2 missense mutation within the MBD domain in a Brazilian male with autistic disorder

作者：Campos Junior Mario; Pestana Cristiane Pinheiro; dos Santos Adriana Vaz; Ponchel Frederique; Churchman Sarah; Abdalla Carvalho Claudia Bueno; dos Santos Jussara Mendonca; dos Santos Flavia Lima; Gikovate Carla Gruber; Santos Reboucas Cintia Barros; Goncalves Pimentel Marcia Mattos

来源：Brain & Development, 2011, 33(10): 807-809.

DOI：10.1016/j.braindev.2011.04.015

Point mutations and genomic rearrangements in the MECP2 gene are the major cause of Rett syndrome (RTT), a pervasive developmental disorder affecting almost exclusively females. MECP2 mutations were also identified in patients with autism without RTT. In this study, we present a mutational and gene dosage analysis of the MECP2 in a cohort of 60 Brazilian males with autistic features but not RTT. No duplication or deletion was identified. Sequencing analysis, however, revealed four MECP2 sequence variations. Three of them were previously discussed as non disease causing mutations and one mutation (p.T160S) was novel. It affects a highly conserved amino acid located within the MBD domain, a region of the protein involved in specific recognition and interaction with methylated CpG dinucleotides. The p.T160S variation was not found in the control sample. This mutation may represent a potential genetic factor for autistic phenotype and should be object of further studies.

• 出版日期2011-11