Table 4 Genetic characteristics of probands with inherited renal hypouricemia in the present study
Case | RHUC | Status | Pathogenic factor (s) for clinical relevance | Mutation gene | Nucleotide change | Effect on coding sequence (a.a change) | Region (exon) | Type of inheritance | Race/ethnicity | Ref |
|---|---|---|---|---|---|---|---|---|---|---|
Proband 1 | Type 1 | Homozygous nonsense | Substitution of guanine to adenine means stop codon in URAT1 gene | URAT1encoding SLC22A12 | c.G774A, p.TrP (TGG) | p.Trp-258Stop | 4 | AR | Korea | [13] |
Proband 2 | Type 2 | Compound HTZ missense | Mutation in the fifth transmembrane domain and replacement of a highly conserved glycine residue with a basic charged aminoacid | SLC2A9 | p.Gly216Arg and p.Arg380Trp, p.Gly216Arg in homozygocity, compound heterzygosity, p.Arg380Trp | p.Arg380Trp | 7,11 | AR | Pakistan | [14] |
Proband 3 | Type 1 | Homozygous | ? | SLC22A12 | c.774 G>A | W258X p.[Trp258Ter] | 4 | AR | Korea | [15] |
Proband 4 |  | Without translocation | – | – | – | – | – | AR | Japan | [16] |
Proband 5 | Type 2 | Homozygous nonsense mutation | Prematurely truncated GLUT9 protein | GLUT9 encoding SLC2A9 | g.68G>A | p.Trp23Stop | 3 | AR | China | [17] |
Proband 6 | Type 1 | HTZ missense | – | SLC22A12 | c.1400C>T | p.T467M, rs20010413 | – | AR | Sri Lanka | [18] |
Proband 7 | Type 1 | Compound HTZ | – | URAT1 Encoding SLC22A12 | G269A:R90H | R90H/W258X | – | AR | Korea | [22] |
Proband 8 | Type 1 | Homozygous | – | SLC22A12 | R90H/R90H | – | – | AR | Japan | [23] |
Proband 9 | Type 1 | Compound HTZ | – | URAT1 encoding SLC22A12 | R90H/W258X | – | – | AR | Japan | [23] |
Proband 10 | Type 2 | HTZ missense | Segregation analysis not performed | SLC2A9 | p.G216R | p.N333S | 5,7 | AR | Prague in Czech | [30] |
Proband 11 | Type 2 | Homozygous mutation | No functional analysis performed | SLC2A9 | p.G216R | p.C297W | 5 | AR | Prague in Czech | [30] |
Proband 12 | Type 2 | Homozygous | Mutation in truncated protein | SLC2A9 | g.43412_43413insC | p. Ile118HisfsX27 | 3 | AR | Czech | [31] |
Proband 13 | Type 2 | Homozygous | Mutation in truncated protein | SLC2A9 | g.27073insC | p. Ile118HisfsX27 | 3 | AR | Czech | [31] |
Proband 14 | Type 1 | HTZ del | Colocalization studies: accumulation of URAT1 protein in the ER leading to misfolded protein partly | URAT1 encoding SLC22A12 | c.1245_1253del | p.G366R | 7, 9 | AR | Czech | [34] |
Proband 15 | Type 1 | HTZ | Colocalization studies: accumulation of URAT1 protein in the ER leading to misfolded protein partly | SLC22A12 | c.1096G>C | p.L415_G417del | 7, 9 | AR | Roma ethnic group in Czech | [34] |
Proband 16 | Type 1 | Homozy gous deletion | Colocalization studies: accumulation of URAT1 protein in the ER leading to misfolded protein partly | SLC22A12 | c.1245_1253del | p.T467M | 7 | AR | Czech | [34] |
Proband 17 | Type 1 | Compound HTZ | Mutation-induced structural instability or malfunction | SLC22A12 | c.269G>A/c.1289_12 | c.269G>A/p.R90H, c.1289_1290insGG/p.M430fsX466 | 1, 8 | AR | china | [35] |
Proband 18 | Type 2 | Homozygous missense | 1. Reduced UA transport activity 2. Mutation in the inner channel that expels UA from the cytoplasmic to extracellular regions | SLC2A9 | c.512G>A | p. Arg 171 His | – | AR | caucasian | [36] |
Proband 19 | Type 1 | Homozygous missense | – | URAT1 encoding SLC22A12 | G269A:R90H | - | 1 | AR | Taiwan | [37] |
Proband 20 | Type 1 | Homozygous nonsense | – | SLC22A12 | G774A |  | – | AR | Japan | [39] |
Proband 21 | Type 1 | Homozygous in SNP, ? partial deletion | – | SLC22A12 | - | - | – | AR | Czech | [40] |
Proband 22 | Type 1 | HTZ missense | – | SLC22A12 | p.T467M | - | – | AR | Sri Lanka | [41] |
Proband 23 | Type 1 | Compound HTZ | – | SLC22A12 | p.T467M | p.L415-G417del | – | AR | Spain | [49] |
Proband 24 | Type 1 | Homozygous | – | SLC22A12 | p.T467M | p.T467M | – | AR | Spain | [49] |
Proband 25 | Type 2 | Homozygous | – | SCLC2A9 | p.T125M | p.T125M | – | AR | Spain | [49] |