To our attention, we found out from doctors that the canverness malformation is indeed hereditary. But how? We don’t know anyone in his family that has had the same problems he has, let alone bran surgery. Well of course DNA played a role in my husbands life. We found out he had family in Flagstaff, AZ, whom he never met, had the same exact surgery, and multiple times. But even with this information, we were still weary about the operation.
“It is thought that a solitary cavernous malformation can be formed when a single cell has two specific mutations, or changes in both copies of a particular gene. As that cell replicates and divides, it goes on to form the cavernous malformation.” There are two genes that were identified from the malformation which are CCM1, CCM2 and CMM3. These genes have unknown functions which is why there is not a stop to the malformations reoccurring.
The malformations will keep occurring with the transport of DNA. It is very hereditary in my husbands family. Just tonight we found out that his mother also has it. What does this mean for our one year old son and our unborn child? Well there is genetic testing provided. The way you would find out if your family has the gene is to do testing on the CCM1 gene. You would perform a sequence of tests on the gene. Most likely you will be able to find something wrong with the CCM1 gene, but if not you can go onto the CCM2 and CCM3 gene. If your family does not have a history of malformations, then it will be hard to diagnose if another family member has the same gene.
