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Phenotypic spectrum and genotype-phenotype correlations of NRXN1 exon deletions.
Eur J Hum Genet ; 20(12): 1240-7, 2012 Dec.
Article em En | MEDLINE | ID: mdl-22617343
Copy number variants (CNVs) and intragenic rearrangements of the NRXN1 (neurexin 1) gene are associated with a wide spectrum of developmental and neuropsychiatric disorders, including intellectual disability, speech delay, autism spectrum disorders (ASDs), hypotonia and schizophrenia. We performed a detailed clinical and molecular characterization of 24 patients who underwent clinical microarray analysis and had intragenic deletions of NRXN1. Seventeen of these deletions involved exons of NRXN1, whereas seven deleted intronic sequences only. The patients with exonic deletions manifested developmental delay/intellectual disability (93%), infantile hypotonia (59%) and ASDs (56%). Congenital malformations and dysmorphic features appeared infrequently and inconsistently among this population of patients with NRXN1 deletions. The more C-terminal deletions, including those affecting the ß isoform of neurexin 1, manifested increased head size and a high frequency of seizure disorder (88%) when compared with N-terminal deletions of NRXN1.
Assuntos

Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Fenótipo / Moléculas de Adesão Celular Neuronais / Éxons / Deleção de Genes / Genótipo / Deficiência Intelectual / Proteínas do Tecido Nervoso Tipo de estudo: Diagnostic_studies Limite: Adolescent / Adult / Child / Female / Humans / Infant / Male Idioma: En Revista: Eur J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2012 Tipo de documento: Article País de afiliação: Estados Unidos

Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Fenótipo / Moléculas de Adesão Celular Neuronais / Éxons / Deleção de Genes / Genótipo / Deficiência Intelectual / Proteínas do Tecido Nervoso Tipo de estudo: Diagnostic_studies Limite: Adolescent / Adult / Child / Female / Humans / Infant / Male Idioma: En Revista: Eur J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2012 Tipo de documento: Article País de afiliação: Estados Unidos