Table 6.
Modes of Inheritance in Alport syndrome
| Inheritance pattern | Prevalence | Gene Affected | Number of disease-causing variants | Collagen IV α Chain Affected | Biological Sex | Who inheritance is from |
|---|---|---|---|---|---|---|
| Autosomal dominant Alport syndrome | 1 in 100 at least | COL4A3 or COL4A4 (both on chromosome 2) | One | α3 or α4 | Male and Female | Inherited from father or mother |
| X-linked Alport syndrome | 1 in 2300 at least | COL4A5 (chromosome X) | One | α5 | Male and Female |
Men inherit from their mother (unless a de novo variant) Women inherit from their father or mother |
| Autosomal recessive Alport syndrome | Much rarer |
COL4A3 or COL4A4 (both on chromosome 2) |
Two in one gene only | α3 or α4 | Male and Female | Inherit from both father and mother (one copy of variant from each) |
| Digenic | Unknown | Any two of COL4A3, COL4A4, COL4A5 | Two different genes | α3, α4, α5 | Male and Female | Inherited from one parent or from both |