Supplemental information Exome sequencing identifies truncating mutations in the PRRT2 gene that cause paroxysmal kinesigenic dyskinesia Wan-Jin Chen

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梁烬潘
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1 Supplemental information Exome sequencing identifies truncating mutations in the PRR gene that cause paroxysmal kinesigenic dyskinesia Wan-Jin hen,, Yu Lin, Zhi-Qi Xiong 3, Wei Wei, Wang Ni,, uo-he an 3, Shun-Ling uo 3, Jin He, Ya-Fang hen, Qi-Jie Zhang, Hong-Fu Li, Yi Lin, Shen-Xing Murong, Jianfeng Xu 4,5, Ning Wang, Zhi-Ying Wu Department of Neurology and nstitute of Neurology, Huashan Hospital, nstitutes of Brain Science and State Key Laboratory of Medical Neurobiology, Shanghai Medical ollege, Fudan University, Shanghai, hina. Department of Neurology and nstitute of Neurology, First ffiliated Hospital, Fujian Medical University, Fuzhou, hina. 3 nstitute of Neuroscience, State Key Laboratory of Neuroscience, Shanghai nstitutes for Biological Sciences, hinese cademy of Sciences, Shanghai, hina. 4 Fudan nstitute of Urology, Huashan Hospital, Shanghai, hina. 5 Fudan-VR enter for genetic Epidemiology, School of Life Science, Fudan University, Shanghai, hina. orresponding uthor Zhi-Ying Wu, Department of Neurology and nstitute of Neurology, Huashan Hospital, nstitutes of Brain Science and State Key Laboratory of Medical Neurobiology, Shanghai Medical ollege, Fudan University, Wulumuqi Zhong Road, Shanghai 00040, hina, Phone/Fax: , zhiyingwu@fudan.edu.cn Ning Wang, Department of Neurology and nstitute of Neurology, First ffiliated Hospital, enter of Neuroscience, Fujian Medical University, 0 hazhong Road, Fuzhou , hina, Phone/Fax: , ningwang63@yahoo.com

2 Supplemental figure : Haplotype analysis of 6 families carrying the indel c.649dup using 36 SNPs flanking the PRR gene. hese 36 SNPs span ~.4 Mb. SNPs rs70578 (red) and rs (red) reside on each side of the PRR gene. Within each family, a haplotype carrying the indel was inferred from transmission of parents to offspring. hese haplotypes are compared among the six families. common haplotype segment (89 kb) flanking the indel was found in 3 of the 6 families (Family, and 7, blue). different haplotype segment (548 kb) was found in two other families (Family 4 and 6, pink). third haplotype was found in the last family (Family 8). Marker Family Family Family 4 Family 6 Family 7 Family 8 rs5496 rs53 rs599 rs3857 rs3844 rs rs rs39539 rs rs45409 rs rs47887 rs0740 rs99666 rs70578 rs rs7045 rs rs rs3336 rs9700 rs rs79085 rs rs rs07390 rs rs rs rs7074 rs rs55767 rs07397 rs rs rs3638

3 rs5496 rs53 rs599 rs3857 rs3844 rs rs rs39539 rs rs45409 rs rs47887 rs0740 rs99666 rs70578 rs rs7045 rs rs rs3336 rs9700 rs rs79085 rs rs rs07390 rs rs rs rs7074 rs rs55767 rs07397 rs rs rs3638

4 rs5496 rs53 rs599 rs3857 rs3844 rs rs rs39539 rs rs45409 rs rs47887 rs0740 rs99666 rs70578 rs rs7045 rs rs rs3336 rs9700 rs rs79085 rs rs rs07390 rs rs rs rs7074 rs rs55767 rs07397 rs rs rs3638

5 Supplemental figure : hromatograms of three truncated mutations.

6 Supplemental figure 3: hromatograms of seven variants predicted to have no functional impact..4>, c.439> and c.640> are shown as forward sequence..696c>, c.709>, c.734> and c.834> are shown as reverse sequence.

7 Supplementary table : PR primers and conditions designed for PRR Exon number Oligonucleotide primers (5 3 ) Size of PR product (bp) nnealing temperature ( ) Exon F R Exon. F R Exon. F R Exon.3 F R Exon3-4 F R Supplementary table : PR primers designed for R-PR and constructs preparation of mouse PRR Primer number Oligonucleotide primers (5 3 ) R-PRR* F R R-PDH** F R F R F R * accession # NM , ** accession # NM

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Supporting_Information_revise Supporting Information The Synthesis and Bioactivity Investigation of the Individual Components of Cyclic Lipopeptide Antibiotics A-Long Cui, Xin-Xin Hu, Yan Gao, Jie Jin, Hong Yi, Xiu-Kun Wang, Tong-Ying