Back to Search
Start Over
De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome
- Source :
- Hoischen , A , van Bon , B W M , Rodríguez-Santiago , B , Gilissen , C , Vissers , L E L M , de Vries , P , Janssen , I , van Lier , B , Hastings , R , Smithson , S F , Newbury-Ecob , R , Kjærgaard , S , Goodship , J , McGowan , R , Bartholdi , D , Rauch , A , Peippo , M , Cobben , J M , Wieczorek , D , Gillessen-Kaesbach , G , Veltman , J A , Brunner , H G & de Vries , B B B A 2011 , ' De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome ' , Nature Genetics , vol. 43 , no. 8 , pp. 729-31 .
- Publication Year :
- 2011
-
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.
Details
- Database :
- OAIster
- Journal :
- Hoischen , A , van Bon , B W M , Rodríguez-Santiago , B , Gilissen , C , Vissers , L E L M , de Vries , P , Janssen , I , van Lier , B , Hastings , R , Smithson , S F , Newbury-Ecob , R , Kjærgaard , S , Goodship , J , McGowan , R , Bartholdi , D , Rauch , A , Peippo , M , Cobben , J M , Wieczorek , D , Gillessen-Kaesbach , G , Veltman , J A , Brunner , H G & de Vries , B B B A 2011 , ' De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome ' , Nature Genetics , vol. 43 , no. 8 , pp. 729-31 .
- Notes :
- English
- Publication Type :
- Electronic Resource
- Accession number :
- edsoai.ocn826493676
- Document Type :
- Electronic Resource