期刊
NATURE GENETICS
卷 43, 期 8, 页码 729-731出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/ng.868
关键词
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资金
- Netherlands Organization for Health Research and Development (ZonMW) [917-66-36, 911-08-025, 916-86-016, 917-86-319]
- EU [Health-F5-2009-223143, LSHG-CT-2006-3762]
- Finland's Slot Machine Association
- Fondo Investigacion Sanitaria, Spain [FIS CD06/00019]
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.
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