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New Classification Scheme Categorizes Genetic Diseases of COL4A3, COL4A4, and COL4A5 Into 3 Types of Alport Syndrome: X-linked, Autosomal, and Digenic
| Inheritance | Affected Gene(s) | Allelic State | Mutation Phenotype |
|---|---|---|---|
| X-linked | COL4A5 | Hemizygous (males) | NA |
| Heterozygous (females) | NA | ||
| Autosomal | COL4A3 or COL4A4 | Homozygous or compound heterozygous | Recessive |
| Heterozygous | Dominant | ||
| Digenic | COL4A3, COL4A4, and COL4A5 | Variable | |
Abbreviation: NA, not applicable.
Data from Kashtan et al.11
