What is MED12?

What is MED12?

Here you can find information about how the mutation (c.5922G> T; p.Gln1974His hemizygotes) work on the MED12 gen and experiences we have. Less than five people in the world have this mutation. Besides, those documented people who had this from before also had a mutation in the OGT gene. Those had some problems (OGT and MED12). The scientists have not recorded what happens when a person only has this one mutation in the MED12 gene and have no OGT mutation. Our son has probably not the problems as those with OGT too. Only time will show. But now I believe he is okay.

My wife didn’t know that she had this mutation on one of her X chromosomes on the MED12 gene. MED12 is on the X chromosomes. One of our four sons inherited this mutation. Why did it happen? I think only God has an answer to that. The man (I the husband) had not this mutation. The unhealthy variation is not always inherited. One X chromosome on the woman was healthy. Our three other sons didn’t inherit this mutation. They inherited the healthy X chromosome from the woman, that didn’t have this mutation.

The genus chromosome for the woman (my wife) is X female and X female with a mutation. (XX)
The genus chromosome for the man is: X male, Y male (XY)

When conception takes place, the chromosome, two out of four letters (XXXY) from man and woman connects.

If the female X or other female X from the woman and the male X connects, comes a girl.

If the female X or the other female X from the woman and the male Y connects, comes a boy.

What that could have happened if we got a girl is that she could get one X with a variation and one without a difference. The other possibility is getting two XX chromosomes without the mutation. If she got one X with modification, then she had inherited this mutation and could give it to her baby, but she would also always have a healthy X chromosome without mutation as a “reserve.” She had probably not gotten other problems if the most influential chromosome did not have this mutation. A girl has logically always an extra X chromosome. If the most influential chromosome is healthy, it can “win” and the woman getting less sickness and problems. I think that was the case with my wife, but I am not an expert.

If we got a boy, he could get one X with mutation and one not mutated Y, or two XY chromosomes without the variation. The probability that he inherited the chromosome with the mutation was then present. A man usually not has an extra X chromosome in reserve as a woman. Therefore, he will get additional consequences with only one X chromosome with a mutation.

From what we now know is it not sure that our boy that has this mutation will get problems later. Now he has little or no issues. What we know is that he can inherit his X chromosome if he later typically become a father and getting a daughter. But if he is naturally getting a boy, then his X chromosome is not inherited to the son. (If not, other problems occur)

Even if a person has a mutation or not, it is not a guarantee that his baby girl is getting the variation. (A First-time mutation. It can happen for everyone.) By looking at the X and Y chromosome and known mutations, we can say something about the probability, but it is nothing we can naturally control or with a high possibility say will happen. It is many peoples with this mutation without knowing about it. Pretty often, they are living a healthy life. If not, they would have contacted their doctor. From this perspective, it is no reasons to say that peoples with this mutation have fewer possibilities as peoples without the variation.

At the very end, I believe it is God, my creator that pulls in his strings that do that things are as they become. I will never allow be pushed down by sad thoughts. It is rich possibilities in the faith to be free from worrying. Who can add an extra day to his life without God knowing about it and have decided it? That’s always good to have in mind.

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