Ectopic expression of HRAS gain-of-function mutation resulted in neurological abnormalities associated with nevus sebaceous syndrome in developing mouse brain
- Title
- Ectopic expression of HRAS gain-of-function mutation resulted in neurological abnormalities associated with nevus sebaceous syndrome in developing mouse brain
- Authors
- SO, KIHURN; BAEK, SEUNG TAE
- Date Issued
- 2019-09-24
- Publisher
- IBRO
- Abstract
- Nevus sebaceous syndrome (NSS) is an infantile neurocutaneous disease with neurological symptoms including seizure and developmental delay. Recently, it has been reported that 91% of NSS patients investigated were identified with postzygotic HRAS c.37G>C mutation, which leads to amino acid substitution G13R. However, the association between the mutation and neurological symptoms remains unknown. We found that ectopic overexpression of human HRASG13R in developing mouse brain by in utero electroporation resulted in developmental abnormalities such as migration defect and early differentiation. These observations may account for neurological symptoms described in NSS patients.
- URI
- https://oasis.postech.ac.kr/handle/2014.oak/103275
- Article Type
- Conference
- Citation
- IBRO 2019, 2019-09-24
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