Good morning, did any of you do a genetic test?
In my case, my son has developed the disease and only I am a carrier, his father is not.
I have been reading that to realize a child with the disease at least both parents have to be carriers.
It is possible that very little is still known...
Genetics is complicated and if both you and your child have had genetic testing then probably best to get advice from the genetic service that did those tests.
Genetic mutations can arise de novo - so possible that that happened. Also with the SLC7A9 mutation it is possible to have a single gene and still have cystinuria. It is also possible there is another mutation that has not yet been discovered.
Presumably your child has also had genetic testing then and so know what gene mutations he has ?
Hello, thanks for answering.
Yes, my son has undergone a genetic test and has a dominant atosomal pattern in the SLC7A9 gene.
Therefore it is heterozygous.
I had always thought that all cystinuria was from a classic autosomal recessive gene.
Not the case with my son.
I assume that the gene is mine because of the physical appearance of my son more similar to me than to his father because I have not had a genetic test.
The cystine excretions of both his father and myself and his brother are normal.
