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Table 1 NPHP and NPHP-RC patients with SDCCAG8 mutations in previous and present reports

From: Genetic analysis diagnosed Bardet–Biedl syndrome in a patient with a clinical diagnosis of Senior–Løken syndrome

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 [5, 7]
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  
  1. Several patients were reported with otitis media and asthma. ESKD end-stage kidney disease, SLS Senior-Løken syndrome, BBS Bardet–Biedl syndrome, NPHP Nephronophthisis, hom Homozygous, hetero Heterozygous, NPHP-RC Nephronophthisis-related ciliopathies, RP Retinitis pigmentosa, MR Mental retardation, ND No data
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Renal Replacement Therapy

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