Department of Genetics, University Medical Center Utrecht, 3584 Utrecht, The Netherlands.
Genes (Basel). 2021 Oct 22;12(11):1667. doi: 10.3390/genes12111667.
Novel genome editing and transient gene therapies have been developed the past ten years, resulting in the first in-human clinical trials for monogenic disorders. Syndromic autism spectrum disorders can be caused by mutations in a single gene. Given the monogenic aspect and severity of syndromic ASD, it is an ideal candidate for gene therapies. Here, we selected 11 monogenic ASD syndromes, validated by animal models, and reviewed current gene therapies for each syndrome. Given the wide variety and novelty of some forms of gene therapy, the best possible option must be decided based on the gene and mutation.
在过去的十年中,新型基因组编辑和瞬时基因疗法已经得到发展,从而首次开展了针对单基因疾病的人体临床研究。综合征性自闭症谱系障碍可由单个基因的突变引起。鉴于综合征性 ASD 的单基因性质和严重性,它是基因治疗的理想候选者。在这里,我们选择了 11 种已通过动物模型验证的单基因 ASD 综合征,并回顾了每种综合征的当前基因疗法。鉴于某些形式的基因治疗具有多样性和新颖性,必须根据基因和突变来确定最佳选择。