Individual-family no. | Clinical diagnosis | ESKD age | Extrarenal manifestations | Hetero/homo | Nucleotide change | Amino acid change | Origin | Consanguineous | Journal |
---|---|---|---|---|---|---|---|---|---|
1-1 | SLS | 11 | RP, generalized seizures | hom | c.421-?_740+?del | p.E141_R247del107fs | Europe | Yes | |
2-1 | SLS | 7 | RP | ||||||
3-2 | BBS | 13 | RP,MR, hypogenitalism, obesity | hom | c.679A>T | p.K227X | Europe | Yes | |
4-2 | BBS | 13 | RP, MR, hypogenitalism, obesity | ||||||
5-3 | BBS | 22 | RP, obesity, MR, hypogenitalism, peripheral neuropathy | het/het | c.696T>G/c.740+1delG | p.Y232X/p.R247fsX250 | Northern Europe | No | |
6-3 | BBS | ND | RP, MR, obesity | ||||||
7-3 | SLS | 28 | RP, obesity, clinodactyly | ||||||
8-4 | BBS | 23 | RP, MR, obesity | hom | c.740+356C>T | Loss of exonic splicing enhancer site | Gypsy | Yes | |
9-4 | BBS | 13 | RP, MR, obesity | ||||||
10-4 | SLS | 10 | RP, MR | ||||||
11-4 | SLS | 6 | RP | ||||||
12-4 | BBS | 31 | RP, obesity, hypogenitalism | ||||||
13 | SLS | 14 | RP, intracranial arachnoid cyst, MR | hom | c.1068+1G>A | Obligatory splice site | Turkey | Yes | |
14-5 | SLS | 7 | RP, MR | hom | c.1339-1340insG | p.E447fsX463 | Algeria | Yes | |
15-5 | SLS | 4 | RP | ||||||
16-6 | SLS | 4 | RP | hom | c.1420delG | p.E474fsX493 | La Réunion | Yes | |
17-6 | SLS | 14 | RP | ||||||
18 | BBS | ND | RP, MR, obesity | het/het | c.1444delA/c.1627_1630delGATA | p.T482fsX493/p.D543fsX566 | India | No | |
19-7 | NPHP | <10 | polycystic ovary syndrome | hom | c.1796T>G | p.L599X | Pakistan | Yes | |
20-7 | NPHP | <9 | No | ||||||
21 | SLS | 22 | RP | hom | c.1946-1949delGTGT | p.C649fsX658 | Germany | ND | |
22 | BBS | 5 | RP, MR, obesity | hom | c.1120C>T | p.R374X | Turkey | Yes | |
23 | SLS | 17 | RP | het | c.679A>T/c.784G>T | p.K227X/p.E262X | Germany | ND | [12] |
24 | NPHP | 5 | No | hom | c.696 T>G | p.Y232X | Turkey | Yes | |
25 | SLS | >15 | RP, polycystic ovaries, hepatomegaly | hom | c.1444delA | p.T482LfsX12 | USA | ND | |
26 | SLS | 12 | RP | het | c.1420delG | p.E474SfsX20 | Spain | ND | |
27 | NPHP | ND | No | hom | c.1444delA | p.T482LfsX12 | Arab | Yes | [13] |
28 | SLS | 3 | RP, MR | hom | c.845_848delTTTG | p.C283X | Japan | Yes | [11] |
29 | NPHP | 2 | MR | hom | c.849_852delTTTG | p.C283X | Japan | No | [14] |
30 (this case) | BBS | 9 | RP, obesity | hom | c.1357-9G>A | New acceptor AG-site | Japan | Yes |