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PHACTR1 is associated with disease progression in Chinese Moyamoya disease

PeerJ. 2020-05-01; 
Yongbo Yang, Jian Wang, Qun Liang, Yi Wang, Xinhua Chen, Qingrong Zhang, Shijie Na, Yi Liu, Ting Yan, Chunhua Hang, Yichao Zhu
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DNA Sequencing … The whole-exome DNA library was sequenced on an Illumina HiSeq X Ten platform and performed as previously described (Stachler et al., 2015). The Sanger sequencing was performed in Genscript Ltd. (Nanjing, China). Bioinformatics analysis … Get A Quote

摘要

Moyamoya disease (MMD) is a progressive stenosis at the terminal portion of internal carotid artery and frequently occurs in East Asian countries. The etiology of MMD is still largely unknown. We performed a case-control design with whole-exome sequencing analysis on 31 sporadic MMD patients and 10 normal controls with matched age and gender. Patients clinically diagnosed with MMD was determined by digital subtraction angiography (DSA). Twelve predisposing mutations on seven genes associated with the sporadic MMD patients of Chinese ancestry (, and were identified, of which eight single nucleotide variants (SNVs) were deleterious with CADD PHRED scaled score > 15. Sanger sequencing of nine cases with disease... More

关键词

Moyamoya disease, Mutation, PHACTR1, Whole-exome sequencing