|
| Author | Year | Country | Patient | Age (years) | Type of pathogenic variant |
|
| Schwartz et al. [6] | 2000 | USA | 1 (FC) | 7 | Missense/nonsense (1565G>A) |
| 2 (IT) | 12 | Missense/nonsense (1565G>A) |
| 3 (MK) | 11 | Gross deletion (Incl.ex.9-12) |
|
| Orrico et al. [17] | 2010 | Italy | 4 (II1) | 66 | Missense/nonsense (1829G>A) |
| 5 (IV9) | 9 | Missense/nonsense (1829G>A) |
| 6 (IV10) | 19 | Missense/nonsense (1829G>A) |
|
| Orrico et al. [18] | 2004 | NR | 7 (50) | 29 | Small insertion (528insC) |
| NR | 8 (90) | 9 | Small insertion (528insC) |
| Portugal | 9 (25) | 11 | Missense/nonsense (614G>T) |
| NR | 10 (53) | 1.3 | Small deletion (982delC) |
| NR | 11 (61) | 21 | Gross deletions (944-975del32) |
| NR | 12 (26) | 3 | Missense/nonsense (1193A>C) |
| NR | 13 (73) | 4.5 | Missense/nonsense (1328G>A) |
| NR | 14 (58) | 1.6 | Small deletion (1316-1319del AGCT) |
| Ireland | 15 (65) | 16 | Small deletion (2530delG) |
| Orrico et al. [18] | 2004 | Italy | 16 | 16 | Missense/nonsense (c.1223G>A) |
|
| Shalev et al. [19] | 2012 | Israel | 17 (IV2) | 24 | Small deletion (c.2192delA) |
| 18 (IV3) | 16 | Small deletion (c.2192delA) |
| 19 (IV4) | 2 | Small deletion (c.2192delA) |
|
| Kaname et al. [11] | 2006 | Japan | 20 (1) | 13 | Missense/nonsense (c.1327G>T) |
| 21 (2) | 4 | Missense/nonsense (c.2221G>T) |
| Bottani et al. [20] | 2007 | Switzerland | 22 | 8 | Missense/nonsense (c.1396A>G) |
|
| Orrico et al. [17] | 2010 | Italy | 23 | 15 | Small insertions (c.944dupC) |
| 24 | 6 | Small insertions (c.944dupC) |
| Bedoyan et al. [21] | 2009 | USA | 25 | 1.25 | Gross deletions (entire gene) |
|
| Orrico et al. [18] | 2004 | NR | 26 (9) | NR | Small deletions (806delC) |
| NR | 27 (2) | NR | Missense/nonsense (c.1205G>A) |
| NR | 28 (5) | NR | Missense/nonsense (c.1590T>A) |
| NR | 29 (10) | NR | Small deletions (1620delC) |
| NR | 30 (3) | NR | Missense/nonsense (c.1673C>G) |
| NR | 31 (11) | NR | Splicing (c.1935+3A>C) |
| NR | 32 (8) | NR | Missense/nonsense (c.1966C>T) |
| NR | 33 (6) | NR | Missense/nonsense (c.1966C>T) |
| NR | 34 (7) | NR | Missense/nonsense (c.1966C>T) |
| NR | 35 (1) | NR | Small deletions (2020_2022 del GAG) |
| NR | 36 (4) | NR | Missense/nonsense (c.2242A>G) |
|
| Pillozzi-Edmonds et al. [22] | 2011 | Canada | 37 (1) | 0.75 | Missense/nonsense (c.175C>T) |
| 38 (2) | 0.75 | Missense/nonsense (c.175C>T) |
| Ronce et al. [2] | 2012 | France | 39 | NR | Duplication |
|
| Aten et al. [23] | 2013 | Netherlands | 40 (III-1) | NR | Small deletions (c.2016-35delA) |
| 41 (III-2) | NR | Small deletions (c.2016-35delA) |
| 42 (I-1) | NR | Small deletions (c.2016-35delA) |
| Altincik et al. [24] | 2013 | Turkey | 43 | 7 | Splicing (c.482-2A>G) |
|
| Al-Semari et al. [25] | 2013 | Saudi Arabia | 45 (index) | 16 | Missense/nonsense (c.1341G>A) |
| 46 (bro‡ 1) | 14 | Missense/nonsense (c.1341G>A) |
| 47 (bro 2) | 21 | Missense/nonsense (c.1341G>A) |
| 48 (nep 1) | 1 | Missense/nonsense (c.1341G>A) |
| 49 (nep 2) | 4 | Missense/nonsense (c.1341G>A) |
| Völter et al. [26] | 2014 | Germany | 44 | 9 | Missense/nonsense (c.1468C>T) |
| Niida et al. [4] | 2014 | Japan | 50 | 6 | Missense/nonsense (c.1340G>A) |
|
| Pérez-Coria et al. [3] | 2015 | Mexico | 51 (1) | 6 | Missense/nonsense (c.1138G>T) |
| 52 (4) | 12 | Missense/nonsense (c.1990C>T) |
| 53 (5) | 4 | Missense/nonsense (c.1990C>T) |
| Ge et al. [13] | 2015 | China | 54 | 2 | Missense/nonsense (c.1270A>G) |
| Parıltay et al. [14] | 2016 | Turkey | 55 | 14 | Splicing mutations (c.1340+2T>A) |
| Griffin et al. [27] | 2016 | USA | 56 (IV-1) | 1 | Missense/nonsense (c.2761C>T) |
|
| Hamzeh et al. [9] | 2017 | UAE | 57 (IV-3) | 7 | Small deletions (c.53delC) |
| 58 (IV-5) | 3 | Small deletions (c.53delC) |
|
