Table 1.
Clinical and genetic findings in this study
| Family Number | Sex | Effect | ESRD Age (yr) | Mutation | Intron/Exon | Transcription | Splicing Variant | Previously Reported cDNA Analysis | Figure |
|---|---|---|---|---|---|---|---|---|---|
| Splice consensus sequence mutations | |||||||||
| A7 | Male | Truncating | 9 | c.610–2A>T | Intron 10 | 19-bp deletion | Creating a novel splice site | Nozu et al.6a | |
| A8 | Male | Truncating | 16 | c.3247–2A>C | Intron 36 | 127-bp deletion | Exon 37 skipping | ||
| A17 | Female | Truncating | no (11 yo) | c.3455–1G>A | Intron 38 | 1-bp deletion | Creating a novel splice site | Nozu et al.6a | |
| A27 | Male | Truncating | no (5 yo) | c.991–1G>A | Intron 17 | 1-bp deletion | Creating a novel splice site | Nozu et al.6a | |
| A28 | Female | Nontruncating | no (6 yo) | c.2147–2A>G | Intron 27 | 18-bp deletion | Creating a novel splice site | Nozu et al.6a | |
| A30 | Female | Nontruncating | no (8 yo) | c.990+1G>T | Intron 17 | 54-bp deletion | Exon 17 skipping | ||
| A43 | Male | Truncating | no (2 yo) | c.1948+1G>A | Intron 25 | 169-bp deletion | Exon 25 skipping | Wang et al.15 | |
| A91 | Female | Nontruncating | no (3 yo) | c.646–2A>G | Intron 11 | 42-bp deletion | Exon 12 skipping | ||
| A97 | Female | Nontruncating | no (18 yo) | c.1166–1G>A | Intron 19 | 174-bp deletion | Exon 20 skipping | ||
| A116 | Female | Nontruncating | no (10 yo) | c.646–1G>C | Intron 11 | 42-bp deletion | Exon 12 skipping | ||
| A141 | Female | Truncating | no (25 yo) | c.3247–2A>G | Intron 36 | 127-bp deletion | Exon 37 skipping | ||
| A196 | Male | Truncating | no (7 yo) | c.1588–1G>A | Intron 23 | 1-bp deletion | Creating a novel splice site | 1A | |
| A244 | Female | Nontruncating | no (18 yo) | c.4069+1G>A | Intron 44 | 72-bp deletion | Exon 44 skipping | ||
| A276 | Male | Nontruncating | 29 | c.892–2A>G | Intron 15 | 45-bp deletion | Exon 16 skipping | ||
| A302 | Female | Truncating | no (10 yo) | c.1948+1G>A | Intron 25 | 169-bp deletion | Exon 25 skipping | Wang et al.15 | |
| A326 | Male | Nontruncating | no (12 yo) | c.2678–1G>A | Intron 31 | 90-bp deletion | Exon 32 skipping | ||
| A333 | Male | Truncating | 23 | c.4803+1G>A | Intron 49 | 345-bp insertion | Creating a large exon | 1B | |
| A365 | Male | Nontruncating | no (3 yo) | c.3604+1G>A | Intron 40 | 51-bp deletion | Exon 40 skipping | ||
| A424 | Male | Truncating | no (11 yo) | c.385–1G>A | Intron 6 | 1-bp deletion | Creating a novel splice site | 1C | |
| Suspected splice site mutations | |||||||||
| A121 | Male | Nontruncating | no (25 yo) | c.546+2_3insT | Intron 9 | 81-bp deletion | Exon 9 skipping | Hashimura et al.7a | |
| A128 | Male | Nontruncating | no (46 yo) | c.2042–18A>G | Intron 26 | 105-bp deletion | Exon 27 skipping | Nozu et al.6a | |
| A158 | Female | Nontruncating | no (14 yo) | c.2245–8T>A | Intron 28 | 6-bp insertion | Creating a novel splice site | Nozu et al.6a | |
| A231 | Female | Nontruncating | no (3 yo) | c.3107–4A>G | Intron 35 | 3-bp insertion | Creating a novel splice site | 1D | |
| A247 | Female | Nontruncating | no (19 yo) | c.687+5G>A | Intron 12 | 42-bp deletion | Exon 12 skipping | 1E | |
| A258 | Male | Nontruncating | no (3 yo) | c.3107–4A>G | Intron 35 | 3-bp insertion | Creating a novel splice site | 1D | |
| A298 | Male | Nontruncating | 25 | c.3107–4A>G | Intron 35 | 3-bp insertion | Creating a novel splice site | 1D | |
| A299 | Female | Truncating | no (2 yo) | c.2395+3A>G | Intron 29 | 151-bp deletion | Exon 29 skipping | 1F | |
| A323 | Female | Non-truncating | no (18 yo) | c.3605–9C>G | Intron 40 | 9-bp insertion | Creating a novel splice site | 1G | |
| A371 | Male | Nontruncating | no (12 yo) | c.1032+3_6 delAAGT | Intron 18 | 42-bp deletion | Exon 18 skipping | 1H | |
| A384 | Female | Truncating | no (6 yo) | c.4511–11A>G | Intron 47 | 10-bp insertion | Creating a novel splice site | 1I | |
| A402 | Male | Nontruncating | no (7 yo) | c.2146+4delT | Intron 27 | 105-bp deletion | Exon 27 skipping | 1J | |
| A452 | Female | Truncating | no (14 yo) | c.2395+5G>A | Intron 29 | 151-bp deletion | Exon 29 skipping | 1K | |
| Deep intronic mutations creating cryptic exon | |||||||||
| A19 | Male | Truncating | no (22 yo) | c.1948+894C>G | Intron 25 | 106-bp insertion with stop codon | Creating a novel exon | Nozu et al.6a | |
| A48 | Male | Truncating | no (6 yo) | c.4511–345A>G | Intron 47 | 74-bp insertion with stop codon | Creating a novel exon | Nozu et al.6a | |
| A126 | Male | Truncating | no (12 yo) | c.609+875G>T | Intron 10 | 123-bp insertion with stop codon | Creating a novel exon | Nozu et al.6a | |
| A217 | Male | Truncating | no (3 yo) | c.4510+1754T>G | Intron 47 | 84-bp insertion with stop codon | Creating a novel exon | Nozu et al.6a | |
| A329 | Male | Nontruncating | 22 | c.1424–367C>T | Intron 21 | 93-bp insertion | Creating a novel exon | 1L | |
| Exonic mutations | |||||||||
| A21 | Male | Nontruncating | 24 | c.3790G>A | Exon 41 | 186-bp deletion | Exon 41 skipping | Nozu et al.6a | |
| A178 | Male | Truncating | 18 | c.876A>T | Exon 15 | 35-bp deletion | Creating a novel splice site | Fu et al.14a | |
| A375 | Male | Truncating | 11 | c.1948G>T | Exon 25 | 169-bp deletion | Exon 25 skipping | 1M | |
| A422 | Male | Nontruncating | 29 | c.548dupG | Exon 10 | 63-bp deletion | Exon 10 skipping | 1N | |
yo, years old.
a
Shows the exact reported case.