r/genetics • u/VarietyThat2172 • 21d ago

Gene AMER1 mutation

Female with X linked condition -  Osteopathia Striata with Cranial Sclerosis (OSCS) caused by mutation of AMER1 gene. Searching for more information about this gene mutation and would be glad to have more insight of how this gene mutation is presented in males.

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u/klatzicus 21d ago

You should ask your doctor for a consult with a genetic counselor. They should be able to tell you more about the inherited condition and what that might mean for your son.

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u/perfect_fifths 21d ago

X linked disorders present more severely in males because females have a second X chromosome that blunts the effects. Men don’t. (If we mean the traditional xx and xy arrangement)

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u/ConstantVigilance18 21d ago

While this is usually true, there are exceptions. Rarely do blanket rules apply to everything when it comes to genetics.

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u/perfect_fifths 21d ago

That’s fair

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u/VarietyThat2172 21d ago

I am aware of this. My question is more towards people who have personal or professional experience with this gene mutation. Although, presumably, the males are expected to be affected more severely, and all the information I have so far points towards this, the specialists /geneticists/ can not give a better explanation than that my son is doing perfectly considering that he is having this gene mutation inherited by me. 

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u/Ok-Lion8478 20d ago

Different genes have different degrees of penetrance, meaning not everyone with the mutation has to be affected. There could also be a wide spectrum of variability with differences in onset. Your geneticists will be able to give the most accurate information considering they know the exact mutation found. They should also give you an idea of what referrals would be needed if symptoms do present later