COL4A5

COL4A5

References in periodicals archive ?
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 [4].
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.