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Nat Genet. 2011 Jun 26;43(8):729-31. doi: 10.1038/ng.868.

De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome.

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  • 1Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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.

PMID:
21706002
[PubMed - indexed for MEDLINE]
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