Alport syndrome is basically caused by the mutation in COL4A3, COL4A4, and COL4A5
. Mutation in these genes outcomes in abnormalities of the type IV collagen in glomeruli which restricts kidneys function to filter blood properly.
A 36-year-old woman with X linked AS (COL4A5, very rare heterozygous nonsense mutation-c.1117C>T, p.Arg373stop in exon 19), chronic kidney disease, hypertension, and obesity presented to the emergency room with the acute onset of substernal chest and neck pain.
X linked is the most common accounting for approximately 85% of cases with the COL4A5 mutation being found on the X chromosome [1, 7].
On the contrary, no a5 chains of type IV collagen in the aortic media were seen on immunostaining in mice with X linked AS due to a nonsense mutation in the COL4A5 gene.
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 .
 Kalluri, R., Weber, M., Netzer, K.O., Sun, M.J., Neilson, E.G., and Hudson, B.G., 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)
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].sub.5] chain of type IV collagen [[[alpha].sub.5](IV)].
(35) As such, the combined use of EM and immunofluorescence studies for [[alpha].sub.3](IV) and [[alpha].sub.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.