The primary abnormality appears to be due to mutations in the COL4A5 gene on the X chromosome that codes for the [alpha]-5 chain of type IV collagen, resulting in abnormal GBM formation.
In one kindred, a mutation in the COL4A5 gene, resulting in abnormal type IV collagen formation, caused the underlying membrane defect.
Approximately 85% of cases of Alport syndrome are due to various mutations in the COL4A5 gene, located on the X chromosome, which encodes the [[alpha].
5](IV) adds both sensitivity and specificity to the diagnosis of Alport syndrome, and by using both diagnostic tools it is possible to diagnose Alport syndrome in more than 90% of individuals with COL4A5 mutations.
Still, in different studies 30% to 55% of males and heterozygous females with COL4A5 mutations exhibited normal EBM staining for [[alpha].
Ultrastructural and immunohistochemical findings in Alport's syndrome: a study of 108 patients from 97 Italian families with particular emphasis on COL4A5 gene mutation correlations.
Alport Syndrome is a genetic condition caused by mutations in the COL4A3, COL4A4 or COL4A5
genes which impacts the body's ability to create a specific type of collagen highly expressed in the kidney and essential to normal kidney structure.
Alport Syndrome is a genetic condition caused by mutations in the COL4A3, COL4A4, and COL4A5
genes that is characterized by kidney disease, hearing loss, and eye abnormalities.