Utilize este identificador para referenciar este registo:
https://hdl.handle.net/1822/67637
Título: | Mutations in the MECP2 gene are not a major cause of Rett syndrome-like or related neurodevelopmental phenotype in male patients |
Autor(es): | Santos, Mónica Temudo, Teresa Kay, Teresa Carrilho, Inês Medeira, Ana Cabral, Helena Gomes, Roseli Lourenço, Maria Teresa Venâncio, Margarida Calado, Eulália Moreira, Ana Oliveira, Guiomar Maciel, P. |
Palavras-chave: | Adolescent Brain Child Child, Preschool DNA Mutational Analysis Developmental Disabilities Humans Magnetic Resonance Imaging Male Methyl-CpG-Binding Protein 2 Mutation Phenotype Rett Syndrome Young Adult Autism Neurodevelopment Rett |
Data: | Jan-2009 |
Editora: | SAGE Publications |
Revista: | Journal of Child Neurology |
Resumo(s): | Rett syndrome is a genetic neurodevelopmental disorder that affects mainly girls, but mutations in the causative MECP2 gene have also been identified in boys with classic Rett syndrome and Rett syndrome-like phenotypes. We have studied a group of 28 boys with a neurodevelopmental disorder, 13 of which with a Rett syndrome-like phenotype; the patients had diverse clinical presentations that included perturbations of the autistic spectrum, microcephaly, mental retardation, manual stereotypies, and epilepsy. We analyzed the complete coding region of the MECP2 gene, including the detection of large rearrangements, and we did not detect any pathogenic mutations in the MECP2 gene in these patients, in whom the genetic basis of disease remained unidentified. Thus, additional genes should be screened in this group of patients. |
Tipo: | Artigo |
URI: | https://hdl.handle.net/1822/67637 |
DOI: | 10.1177/0883073808321043 |
ISSN: | 0883-0738 |
e-ISSN: | 1708-8283 |
Arbitragem científica: | yes |
Acesso: | Acesso aberto |
Aparece nas coleções: | ICVS - Artigos em revistas internacionais / Papers in international journals |
Ficheiros deste registo:
Ficheiro | Descrição | Tamanho | Formato | |
---|---|---|---|---|
Santos-2009-Mutations-in-the-mecp-gene-are-not-.pdf | 123,63 kB | Adobe PDF | Ver/Abrir |