It is caused by mutations in the COL4A3 and/or COL4A4 genes located on chromosome no 2 or the COL4A5 gene on the X chromosome .
COL4A5 gene deletion and production of post-transplant anti-alpha-3(IV) collagen alloantibodies in Alport syndrome.
Patients with AS, have deletions in the COL4A5
and COL4A6 genes that result in the removal of the 5 -ends of these genes (l).
The most common, X-linked form arises from mutations in COL4A5
, the gene encoding the alpha-5 chain of type IV collagen (3,4)
Table 2 Single Gene and Multifactorial Genetic Diseases that Can Lead to Kidney Dysfunction Disease Gene Locus Single Gene Disorders Alport syndrome COL4A5
, ATS, ASLN Xg22.
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.