Skip to main content

Table 4 Genetic characteristics of probands with inherited renal hypouricemia in the present study

From: Prevalence of inherited changes of uric acid levels in kidney dysfunction including stage 5 D and T: a systematic review

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]
  1. AR autosomal recessive, HTZ heterozygous, RHUC1, 2 renal hypouricemia type 1 and 2, SNP single-nucleotide polymorphism