Table 1 Summary of the Chinese patients with UMOD mutation
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 |