De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome.
Nat Genet
; 43(8): 729-31, 2011 Jun 26.
Article
em En
| MEDLINE
| ID: mdl-21706002
ABSTRACT
Bohring-Opitz syndrome is characterized by severe intellectual disability, distinctive facial features and multiple congenital malformations. We sequenced the exomes of three individuals with Bohring-Opitz syndrome and in each identified heterozygous de novo nonsense mutations in ASXL1, which is required for maintenance of both activation and silencing of Hox genes. In total, 7 out of 13 subjects with a Bohring-Opitz phenotype had de novo ASXL1 mutations, suggesting that the syndrome is genetically heterogeneous.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Proteínas Repressoras
/
Códon sem Sentido
/
Craniossinostoses
/
Polimorfismo de Nucleotídeo Único
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Deficiência Intelectual
Tipo de estudo:
Etiology_studies
/
Prognostic_studies
Limite:
Humans
Idioma:
En
Ano de publicação:
2011
Tipo de documento:
Article