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Table 5 Genetic characteristics of patients with inherited tubulointerstitial kidney disease 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 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 HTZ missense Proline residue, high mature: precursor ratio of uromodulin protein UMOD c.C518G p.P173R 4 AD Japan [10]
Proband 2 HTZ missense Altered evolutionary conserved residues in encoding UMOD gene UMOD c.187T>C p.Cys63Arg 3 AD Korea [11]
Proband 3 HTZ missense Co-segregation with disease, altered cysteine residue of uromodulin UMOD c.1382C>A p.Ala461Glu 6 AD Korea [12]
Proband 4 HTZ missense Co-segregation of disease phenotypes UMOD c0.667 TG G, p.223, Cysteine 3 AD China [19]
Proband 5 missense Ca-binding EGF-like domains of uromodulin protein UMOD c.189C > G C63W 4 AD Turkey [20]
Proband 6 HTZ missense Mutation in UMOD encoding uromodulin protein (THP) UMOD c.920A → C p.K307 T 5 AD Portugal [21]
Proband 7 Sequence variant Loss of a cysteine residue in the EGF domain of uromodulin protein UMOD c (0).2297> C Cys77Arg 4 AD Poland [24]
Proband 8 HTZ substitution Aminoacid substitution UMOD T403G c.135G 4 AD Japan [25]
Proband 9 Homo nonsense Aminoacid substitution UMOD c.589G>T p.E197X 3 AD Iran [26]
Proband 10 HTZ missense Altered evolutionary conserved residues in encoding UMOD gene UMOD c.688T>C p. Trp 230Arg 4 AD Japan [27]
Proband 11 No gene mutation identified No causal gene identified, new monogenic cause UMOD, REN, HNF1β-negative AD UK [28]
Proband 12 HTZ transversion mutation Aminoacid substitution and significant conformational change UMOD c.891T>G p.C297W 4 AD Hungary [29]
Proband 13 HTZ transversion mutation Aminoacid substitution and significant conformational change UMOD c.891T>G p.C297W 4 AD Hungary [29]
Proband 14 HTZ transversion mutation Aminoacid substitution and significant conformational change UMOD c.891T>G p.C297W 4 AD Hungary [29]
Proband 15 HTZ transversion mutation Aminoacid substitution and significant conformational change UMOD c.891T>G p.C297W 4 AD Hungary [29]
Proband 16 missense mutation 1. Conserved cysteine to glycine aminoacid substitution in uromodulin zona pollucida domain
2. Delay protein export to the PM due to insertion in ER
3. Uromodulin deficiency
4. Co-segregation
UMOD c.1039T>G p.C347G 6 AD Berlin [32]
Proband 17 Missense mutation 1. conserved cysteine to glycine aminoacid substitution in uromodulin zona pollucida domain
2. delay protein export to the PM due to insertion in ER
3. Uromodulin
Deficiency
4. Co-segregation
UMOD 1039T>G p.C347G 6 AD Berlin [32]
Proband 18 HTZ 1. Co-segregation UMOD C744G Cys248Trp 6 AD Italy [33]
Proband 19 HTZ 1.Reduction of urinary excretion of UMOD
2. Co-segregation
UMOD C744G Cys248Trp 4 AD Turkey [33]
Proband 20 HTZ Co-segregation UMOD C744G Cys248Trp 4 AD German [33]
Proband 21 HTZ Reduction of urinary excretion of UMOD UMOD C744G Cys248Trp 4 AD Switzerland [33]
Proband 22 HTZ 1. Highly conserved of the cysteine residues in the UMOD protein throughout evolution
2. Co-segregation
UMOD T229G Cys77Gly 4 AD USA [33]
Proband 23 HTZ missense 1. Altered disulfide bond formation due to substitution, retention in ER leading to unfolded protein response and apoptosis
2. Highly conserved of the cysteine residues in the UMOD protein throughout evolution
3. Co-segregation
UMOD c.949T>G p.C317G 5 AD India [38]
Proband 24 HTZ missense 1. Altered disulfide bond formation due to substitution, retention in ER leading to unfolded protein response and apoptosis
2. Highly conserved of the cysteine residues in the UMOD protein throughout evolution
3. Co-segregation
UMOD c.949T>G p.C317G 5 AD India [38]
Proband 25 HTZ missense Mutation in EGF1 domain, misfolding of the UMOD protein UMOD c.163G>A p.Gly55Ser 4 AD Brazil [42]
Proband 26 UMOD AD USA [43]
Proband 27 Homozyous missense UMOD c.263G>A p.Gly88Asp AR Turkey [44]
Proband 28 HTZ missense ZP domain of uromodulin protein UMOD c.1648G>A p.V550I 8 AD China [45]
Proband 29 UMOD c.517G>A p.proP173Ala 3 AD Spain [46]
Probands 30 HTZ Protein deposits of misfolded uromodulin leading to misfolded protein accumulation in ER and ER stress, absence of uromodulin in apical membranes UMOD c.707C>G p.pro236Arg 3 AD Caucasian [47]
Proband 31 HTZ missense 1. Accumulation of uromodulin into ER
2. Maturation impairement
3. Severe reduction of uromodulin excretion
UMOD c.C317Y 950G>A 5 AD Italy [48]
Proband 32 HTZ missense 1. Accumulation of uromodulin into ER
2. Maturation impairement
3. Severe reduction of uromodulin excretion
UMOD c.C317Y 950G>A 5 AD Italy [48]
Proband 33 HTZ missense 1. Accumulation of uromodulin into ER
2. Maturation impairement
3. Severe reduction of uromodulin excretion
UMOD c.C317Y 950G>A 5 AD Italy [48]
Proband 34 HTZ missense 1. Accumulation of uromodulin into ER
2. Maturation impairement
3. Severe reduction of uromodulin excretion
UMOD c.C317Y 950G>A 5 AD Italy [48]
Proband 35 HTZ missense 1. Accumulation of uromodulin into ER
2. Maturation impairement
3. Severe reduction of uromodulin excretion
UMOD c.C317Y 950G>A 5 AD Italy [48]
Proband 36 HTZ missense 1. Accumulation of uromodulin into ER
2. Maturation impairement
3. Severe reduction of uromodulin excretion
UMOD c.C317Y 950G>A 5 AD Italy [48]
Proband 37 HTZ missense 1. Accumulation of uromodulin into ER
2. Maturation impairement
3. Severe reduction of uromodulin excretion
UMOD c.C317Y 950G>A 5 AD Italy [48]
Proband 38 HTZ missense 1. Accumulation of uromodulin into ER
2. Maturation impairement
3. Severe reduction of uromodulin excretion
UMOD c.C315R 943T>C 5 AD Italy [48]
Proband 39 HTZ missense 1. Accumulation of uromodulin into ER
2. Maturation impairement
3. Severe reduction of uromodulin excretion
UMOD c.C315R 943T>C 5 AD Italy [48]
Proband 40 HTZ missense 1. Accumulation of uromodulin into ER
2. Maturation impairement
3. Severe reduction of uromodulin excretion
UMOD c.C315R 943T>C 5 AD Italy [48]
  1. AD autosomal dominance, ER endoplasmic reticulum, HTZ heterozygous, PM plasma membrane, UMOD uromodulin