Table 3.
Characteristics | Number of patients |
---|---|
Patients diagnosed with AS by NGS | 3 |
Patients with COL4A5 mutation | 2 |
Patients with COL4A3 mutation | 1 |
Patients diagnosed with other diseases by NGS | 2a |
No mutations were detected | 8 |
Total | 13 |
Abbreviations: AS, Alport syndrome; NGS, next generation sequence
Hemizygous CLCN5 gene mutation and compound heterozygous LAMB2 gene mutation