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Table 1 Summary of the Chinese patients with UMOD mutation

From: UMOD gene mutations in Chinese patients with autosomal dominant tubulointerstitial kidney disease: a pediatric case report and literature review

Index case Year Sex Age (yr) UA Cyst ESRD Family History exon Mutation
1 2018 F 16 7 No No Yes 3 c.667 T > G,p.Cys223Gly
2 2013 M 18 8.2 Yes Yes Yes 3 c,707G > A,p.Pro236Gln
3 2017 M 20 8.4 No No No 3 c.104G > A,p.Cys35Tyr
4 2013 F 21 10.1 Yes No Yes 3 c.744C > G,p.Cys248Trp
5 2015 F 21 4.8 Yes No Yes 3 c.744C > G,p.Cys248Trp
6 2015 M 22 8.8 No Yes Yes 3 c.1153C > T,p.Arg385Try
7 2013 F 24 10.1 No Yes Yes 3 c.326 T > A,p.Val109Glu
8 2015 F 24 6.8 No No Yes 3 c.707G > A,p.Pro236Gln
9 2017 F 38 2.8 No No Yes 3 c.113A > T,p.Asn38Ile
10 2017 F 41 5.4 Yes No Yes 4 c,860G > T,p.Cys28Phe
11 2015 M 44 4.3 Yes No Yes 5 c.197 T > C,p.Leu66Pro
12 2012 M 45 9.6 No Yes Yes 9 c.1815A > G,p.Thr605Gly
13 2015 M 47 9.0 Yes Yes Yes 4 c.854C > A,p.Ala285Glu
14 2015 M 60 4.7 Yes No Yes 3 272delC
  1. M male, F female, UA uric acid(mg/dl)