Table 2 Other reported cases with PAX2 mutations in literature between the years 2000 to 2016
Patient | Age (years) | Renal hypoplasia | Renal insufficiency | Optic nerve colobama | VUR | PAX2 mutation | Year | Reference |
|---|---|---|---|---|---|---|---|---|
1 | 7 | + | + | + | + | exon 2619 ins G | 2000 | [20] |
2–1 | 8 | + | + | – | + | exon 9 1566 C > A (novel) | 2001 | [13] |
2–2 | 4 | + | + | Right+;Left - | – | exon 7 1318 C > T (novel) | 2001 | [13] |
3–1 | 6 | + | + | + | unknown | 832 del G | 2001 | [21] |
3–2 | 37 | + | + | + | unknown | 832 del G | 2001 | [21] |
3–3 | 12 | + | – | + | unknown | 619 ins G | 2001 | [21] |
3–4 | 11 | + | +− | + | unknown | 619 ins G | 2001 | [21] |
3–5 | 10 | + | +− | + | unknown | 619 ins G | 2001 | [21] |
3–6 | 15 | + | – | + | unknown | 619 ins G | 2001 | [21] |
3–7 | 19 | + | +− | + | unknown | 658–663 del | 2001 | [21] |
3–8 | 17 | + | – | + | unknown | 619 ins G | 2001 | [21] |
3–9 | 29 | + | – | + | unknown | 619 ins G | 2001 | [21] |
4 | 9 | + | + | + | unknown | exon 2602 del T (novel) | 2001 | [22] |
5–1 | 34 | + | + | + | – | exon 2755 G > C | 2005 | [23] |
5–2 | Mother of 5–1 | + | + | + | – | exon 2755 G > C | 2005 | [23] |
6–1 | 21, II-3 | + | + | + | – | exon 2 (682–691) del CAGGGTGTGC | 2005 | [24] |
6–2 | 3, III-3 | + | + | – | + | exon 2 (682–691) del CAGGGTGTGC | 2005 | [24] |
6–3 | 24, III-4 | + | + | + | – | exon 2 (682–691) del CAGGGTGTGC | 2005 | [24] |
6–4 | 3, IV-1 | + | + | + | – | exon 2 (682–691) del CAGGGTGTGC | 2005 | [24] |
6–5 | 0.5, V-2 | + | + | + | – | exon 2 (682–691) del CAGGGTGTGC | 2005 | [24] |
6–6 | 0.5, V-2 | + | + | + | – | exon 2 (682–691) del CAGGGTGTGC | 2005 | [24] |
7–1 | 21 | + | + | + | – | exon 2619_620 ins G | 2007 | [25] |
7–2 | 17 | + | – | + | – | exon 2619_620 ins G | 2007 | [25] |
7–3 | 11 | + | – | + | – | exon 2619_620 ins G | 2007 | [25] |
7–4 | 15 | + | + | + | – | exon 2619_620 ins G | 2007 | [25] |
7–5 | 2.5 | + | – | + | – | exon 2619_620 ins G | 2007 | [25] |
7–6 | 11 | + | – | + | – | exon 3 p.R 104 × | 2007 | [25] |
8 | 5 month | + | + | – | – | del (10) (q23.2q24.3) | 2007 | [14] |
9 | 19 | + | + | + | + | exon 3 c.853 C > T (p.R104X) | 2008 | [26] |
10 | 1Â month | + | + | + | unknown | exon 2619 ins G | 2010 | [27] |
11 | <1 | + | + | + | + | exon 2 del (10q24.2q24.32) | 2012 | [28] |
12 | 8 | + | + | + | – | exon 2 del (10q24.31) | 2012 | [29] |
13 | 61 | + | + | + | – | exon 3 c.228_251 dup | 2013 | [12] |
14–1 | unknown | + | + | + | unknown | exon 2 c.119–120 del GC | 2015 | [30] |
14–2 | unknown | + | + | + | unknown | exon 2 c.119–120 del GC | 2015 | [30] |
14–3 | unknown | + | + | + | unknown | exon 2 c.119–120 del GC | 2015 | [30] |
14–4 | unknown | + | + | + | unknown | exon 2 c.119–120 del GC | 2015 | [30] |
14–5 | unknown | + | + | + | unknown | exon 2 c.119–120 del GC | 2015 | [30] |
14–6 | unknown | + | + | + | unknown | exon 2 c.212G>C | 2015 | [30] |
14–7 | unknown | + | + | + | unknown | exon 2 c.212G>C | 2015 | [30] |
14–8 | unknown | + | + | + | unknown | exon 9 c.1023C>A | 2015 | [30] |
14–9 | unknown | + | + | + | unknown | exon 2 c.187G>A | 2015 | [30] |
14–10 | unknown | + | + | + | unknown | exon 2 c.57–58 ins GTGAACC | 2015 | [30] |
14–11 | unknown | + | + | + | unknown | exon 3 c.224-225insAC | 2015 | [30] |
15–1 | 27 | + | + | – | + | exon 2 c.76dupG (p.Val26Glyfs*28) | 2016 | [31] |
15–2 | 2 | + | + | – | – | exon 2 c.76dupG (p.Val26Glyfs*28) | 2016 | [31] |
15–3 | <1 | + | + | – | – | exon 2 c.76dupG (p.Val26Glyfs*28) | 2016 | [31] |