Table 1.
Results of genetic testing in 14 patients from 11 thin basement membrane nephropathy (TBMN)/Autosomal dominant Alport syndrome (ADAS) families
| Patient No. | Family No. | Gene | Exon/Intron | Nucleotide change | Amino acid change | Previous report of ARAS |
|---|---|---|---|---|---|---|
| 1 | 1 | COL4A4 | Exon 20 | c.1323_1340del | 18 bp deletion | 18 |
| 2 | 1 | COL4A4 | Exon 20 | c.1323_1340del | 18 bp deletion | 18 |
| 3 | 2 | COL4A4 | Exon 48 | c.4847T>G[Link] | p.Leu1616Arg | ‐ |
| 4 | 2 | COL4A4 | Exon 48 | c.4847T>G[Link] | p.Leu1616Arg | ‐ |
| 5 | 3 | COL4A4 | Exon 14 | c.827G>C[Link] | p.Gly276Ala | ‐ |
| 6 | 3 | COL4A4 | Exon 14 | c.827G>C[Link] | p.Gly276Ala | ‐ |
| 7 | 4 | COL4A4 | Exon 44 | c.4129C>T | p.Arg1377X | 19 |
| 8 | 5 | COL4A4 | Exon 18 | c.1057G>C[Link] | p.Gly353Arg | ‐ |
| 9 | 6 | COL4A4 | Exon 14 | c.827G>C[Link] | p.Gly276Ala | ‐ |
| 10 | 7 | COL4A4 | Intron 38 | c.3577+1G>A[Link] | ‐ | |
| 11 | 8 | COL4A3 | Exon 47 | c.4207G>A[Link] | p.Gly1403Arg | ‐ |
| 12 | 9 | COL4A3 | Exon 40 | c.3464G>A | p.Gly1155Asp | 20 |
| 13 | 10 | COL4A3 | Exon 40 | c.3464G>A | p.Gly1155Asp | 20 |
| 14 | 11 | COL4A3 | Exon 33 | c.2863G>A[Link] | p.Gly955Arg | ‐ |
†Novel mutation.