Table 3.
List of mutations found in patients who reached ESKD
| Patient | Article | Age at ESRD (years) | Mutated gene | cDNA position | Protein position | HGMD |
|---|---|---|---|---|---|---|
| 1 | Jefferson et al. [24] | 35 | COL4A3 | c.4421T>Ca | p.Leu1474Pro | CM1310319 |
| 2 | van der Loop et al. [25] | 35 | COL4A3 | c. 1315G>Ab (leading to exon 21 skipping) | p.Gly439Serb (including exon 21 skipping) | CS003734 |
| 3 | Ciccarese et al. [26] | 60 | COL4A4 | c.975G>T | p.Lys325Asn | CM014171 |
| 4 | Ciccarese et al. [26] | 66 | COL4A4 | c.975G>T | p.Lys325Asn | CM014171 |
| 5 | Pescucci et al. [27] | 41 | COL4A4 | c.2869G>C | p.Gly957Arg | CM044600 |
| 6 | Pescucci et al. [27] | 52 | COL4A4 | c.2869G>C | p.Gly957Arg | CM044600 |
| 7 | Pescucci et al. [27] | 84 | COL4A3 | c.3134G>T | p.Gly1045Val | CM044599 |
| 8 | Pescucci et al. [27] | 45 | COL4A3 | c.3655G>T | p.Gly1219Cys | CM044598 |
| 9 | Pescucci et al. [27] | 70 | COL4A3 | c.3655G>T | p.Gly1219Cys | CM044598 |
| 10 | Marcocci et al. [28] | 46 | COL4A4 | c.1580delG or c.1580_1580delG | p.Gly527Valfs*126 | CD095038 |
| 11 | Marcocci et al. [28] | 67 | COL4A4 | c.1580delG or c.1580_1580delG | p.Gly527Valfs*126 | CD095038 |
| 12 | Marcocci et al. [28] | 42 | COL4A4 | c.4494delG or c.4494_4494delG | p.Gln1499Lysfs*53 | CD095039 |
| 13 | Marcocci et al. [28] | 60 | COL4A4 | c.2383 + 2T>G (ivs28 + 2T>G) | NA (splicing mutation) | CS095029 |
| 14 | Marcocci et al. [28] | 45 | COL4A4 | c.3289 + 1G>A (ivs35 + 1G>A) | NA (splicing mutation) | CS073457 |
| 15 | Marcocci et al. [28] | 60 | COL4A4 | c.3289 + 1G>A (ivs35 + 1G>A) | NA (splicing mutation) | CS073457 |
| 16 | Pierides et al. [3] | 57 | COL4A3 | c.4001G>A | p.Gly1334Glu | CM014047 |
| 17 | Pierides et al. [3] | 64 | COL4A3 | c.4001G>A | p.Gly1334Glu | CM014047 |
| 18 | Pierides et al. [3] | 58 | COL4A3 | c.4001G>A | p.Gly1334Glu | CM014047 |
| 19 | Pierides et al. [3] | 68 | COL4A3 | c.4001G>A | p.Gly1334Glu | CM014047 |
| 20 | Pierides et al. [3] | 55 | COL4A3 | c.4001G>A | p.Gly1334Glu | CM014047 |
| 21 | Pierides et al. [3] | 53 | COL4A4 | c.3648delG (previously mentioned 3854delG) | p.Ser1217Alafs*71 | CD982552 |
| 22 | Pierides et al. [3] | 40 | COL4A4 | c.3648delG (previously mentioned 3854delG) | p.Ser1217Alafs*71 | CD982552 |
| 23 | Pierides et al. [3] | 67 | COL4A3 | c.4001G>A | p.Gly1334Glu | CM014047 |
| 24 | Pierides et al. [3] | 78 | COL4A3 | c.4001G>A | p.Gly1334Glu | CM014047 |
| 25 | Pierides et al. [3] | 62 | COL4A3 | c.4001G>A | p.Gly1334Glu | CM014047 |
| 26 | Pierides et al. [3] | 52 | COL4A3 | c.2611G>T | p.Gly871Cys | CM077179 |
| 27 | Pierides et al. [3] | 62 | COL4A3 | c.4001G>A | p.Gly1334Glu | CM014047 |
| 28 | Pierides et al. [3] | 45 | COL4A3 | c.4001G>A | p.Gly1334Glu | CM014047 |
| 29 | Pierides et al. [3] | 83 | COL4A3 | c.4001G>A | p.Gly1334Glu | CM014047 |
| 30 | Pierides et al. [3] | 55 | COL4A3 | c.4001G>A | p.Gly1334Glu | CM014047 |
| 31 | Pierides et al. [3] | 55 | COL4A3 | c.4001G>A | p.Gly1334Glu | CM014047 |
| 32 | Pierides et al. [3] | 65 | COL4A3 | c.2611G>T | p.Gly871Cys | CM077179 |
| 33 | Artuso et al. [29] | 24 | COL4A4 | c.4749_4751delGTC c.5044C>T | p.(Gln1583_Ser1584delinsHis) p.Arg1682Trpc | CD120076 CM120075 |
| 34 | Fallerini et al. [30] | 70 | COL4A3 | c.2083G>A | p.Gly695Arg | CM040407 |
| 35 | Fallerini et al. [30] | 72 | COL4A3 | c.3239G>C | p.Gly1080Ala | CM148115 |
| 36 | Fallerini et al. [30] | 60 | COL4A4 | c.217C>T | p.Gln73* | CM148117 |
| 37 | Fallerini et al. [30] | 43 | COL4A4 | c.1109G>A | p.Gly370Glu | CM148118 |
| 38 | Fallerini et al. [30] | 53 | COL4A4 | c.1109G>A | p.Gly370Glu | CM148118 |
| 39 | Fallerini et al. [30] | 59 | COL4A4 | c.1109G>A | p.Gly370Glu | CM148118 |
| 40 | Fallerini et al. [30] | 54 | COL4A4 | c.2752G>A | p.Gly918Arg | CM148122 |
| 41 | Fallerini et al. [30] | 38 | COL4A4 | c.4444delC | p.Leu1482Trpfs*70 | CD148126 |
| 42 | Fallerini et al. [30] | 52 | COL4A4 | c.4749_4751delGTC | p.Gln1583_Ser1584delinsHis | |
| 43 | Papazachariou et al. [31] | 37 | COL4A4 | c.3648delG | p.Ser1217Alafs*71 | CD982552 |
| 44 | Papazachariou et al. [31] | 69 | COL4A3 | c.4001G>A | p.Gly1334Glu | CM014047 |
| 45 | Papazachariou et al. [31] | 45 | COL4A3 | c.4001G>A | p.Gly1334Glu | CM014047 |
| 46 | Papazachariou et al. [31] | 39 | COL4A3 | c.4001G>A | p.Gly1334Glu | CM014047 |
| 47 | Papazachariou et al. [31] | 55 | COL4A3 | c.4001G>A | p.Gly1334Glu | CM014047 |
| 48 | Papazachariou et al. [31] | 40 | COL4A3 | c.4001G>A | p.Gly1334Glu | CM014047 |
| 49 | Papazachariou et al. [31] | 51 | COL4A3 | c.1450G>A | p.Gly484Arg | CM1413855 |
| 50 | Papazachariou et al. [31] | 55 | COL4A3 | c.1450G>A | p.Gly484Arg | CM1413855 |
| 51 | Papazachariou et al. [31] | 69 | COL4A4 | c.428G>T | p.Gly143Val | CM1413857 |
| 52 | Papazachariou et al. [31] | 43 | COL4A4 | c.623G>A | pGly208Asp | CM1413858 |
| 53 | Lin et al. [32] | 63 | COL4A4 | c.G2636A (;) c.C4715T | p.Gly879Glu(;) p.Pro1572Leu | CM1412497(;) CM980400 |
| 54 | Lin et al. [32] | 55 | COL4A4 | c.2990G>Ad | p.Gly997Glu | NA |
| 55 | Ramzan et al. [33] | 55 | COL4A4 | c.2420delG | p.Gly807Valfs*62 | CD1313492 |
| 56 | Rosado et al. [34] | 22 | COL4A3 | c.345delG | p.Pro116Leufs*37 | CD150451 |
| 57 | Rosado et al. [34] | 31 | COL4A3 | c.4235G>T | p.Gly1412Val | CM034407 |
| 58 | Rosado et al. [34] | 34 | COL4A3 | c.4235G>T | p.Gly1412Val | CM034407 |
| 59 | Kamiyoshi et al. [20] | 63 | COL4A4 | c.1733G>T | p.Gly578Val | CM143835 |
| 60 | Deng et al. [35] | 56 | COL4A4 | c.3213delA or c.3213_3213delA | p.Gly1072Glufs*69 | CD1617449 |
| 61 | Deng et al. [35] | 60 | COL4A4 | c.3213delA or c.3213_3213delA | p.Gly1072Glufs*69 | CD1617449 |
| 62 | Papazachariou et al. [14] | 55 | COL4A3 | c.3751G>A | p.Gly1251Ser | CM1714507 |
| 63 | Papazachariou et al. [14] | 61 | COL4A3 | c.3751G>A | p.Gly1251Ser | CM1714507 |
| 64 | Papazachariou et al. [14] | 65 | COL4A3 | c.3751G>A | p.Gly1251Ser | CM1714507 |
| 65 | Papazachariou et al. [14] | 23 | COL4A4 | c.2242G>A | p.Gly748Ser | CM1714512 |
| 66 | Papazachariou et al. [14] | 63 | COL4A4 | c.489 + 1G>C (ivs7 + 1G>C) | NA (splicing mutation) | CS1714514 |
| 67 | Imafuku et al. [36] | 60 | COL4A4 | c.1323_1340del18bp | p.(Pro444_Leu449del)e | CD982550 |
| 68 | Imafuku et al. [36] | 58 | COL4A4 | c.827G>C | p.Gly276Ala | CM1720200 |
| 69 | Imafuku et al. [36] | 42 | COL4A3 | c.2863G>A | p.Gly955Arg | CM1720204 |
| 70 | Bullich et al. [22] | 21 | COL4A3 | c.2125 + 1_2224-1)_(2980 + 1_3071-1)dup | Duplication of ex. 29-30_36 | CN1811341 |
| 71 | Bullich et al. [22] | 42 | COL4A3 | c.2275G>A | p.Gly759Arg | CM1811343 |
| 72 | Bullich et al. [22] | 56 | COL4A4 | c.1460G>T | p.Gly487Val | CM1414118 |
| 73 | Bullich et al. [22] | 40 | COL4A4 | c.4508delA or c.4508_4508delA | p.His1503Profs*49 | CD1811330 |
| 74 | Bullich et al. [22] | 41 | COL4A4 | c.3817G>A | p.Gly1273Arg | CM1811348 |
| 75 | Kharrat et al. [37] | 40 | COL4A3 or COL4A4f | ND | ND | ND |
| 76 | Kharrat et al. [37] | 53 | COL4A3 or COL4A4f | ND | ND | ND |
a
HGMD, Human Gene Mutation Database. In the original publication by Jefferson et al. [24], this mutation is referred to as p.Leu36Pro, as the counting in those days, was from the 3′-end of the gene and was corresponding to exon 5.
b
Described as p.Gly493Ser, which leads to a splicing mutation, skipping of exon 21, 55aa, from 439 to 493 (also coded as p.439. aGGT>AGT, Gly439Ser. A mutated chain that lacks 55 amino acids in the collagenous domain, between Gly438 and Gly493).
c
Glutamine and serine are deleted, and histidine is inserted.
d
In the original publication, it was erroneously referred to as c.Gly2290Ala.
e
Deletion of six amino acids (Gly-Lys-Pro-Gly-Ala-Pro) from Gly442 to Pro448.
f
Pathogenicity was defined by linkage analysis, specific gene not defined (ND), NA, not applicable.