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.
Original language | English |
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Journal | Nature Genetics |
Volume | 43 |
Issue number | 8 |
Pages (from-to) | 729-731 |
Number of pages | 3 |
ISSN | 1061-4036 |
DOIs | |
Publication status | Published - 01.08.2011 |