COL4A5

COL4A5

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El sindrome de Alport es un trastorno genetico raro caracterizado por mutaciones en los genes COL4A3, COL4A4 o COL4A5, que causa sintesis defectuosa del colageno tipo IV de las membranas basales (1).
Aproximadamente el 80% de los casos de sindrome de Alport tienen herencia ligada al cromosoma X, con mutaciones en COL4A5 que codifica para la cadena a5 del colageno tipo IV los hombres estan mas severamente afectados que las mujeres (8-10).
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 [4].
[11] 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.