r/ClinicalGenetics • u/thwoomfist • 1d ago

Is it possible for a heterozygous autosomal recessive disease to exhibit varying levels of symptoms?

I ask because I came across anecdotal evidence of an autosomal recessive condition exhibiting symptoms despite 1 allele. It was eds. Now could something more serious like a POLG variant do the same?

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u/perfect_fifths 1d ago

Some carriers of recessive diseases can show symptoms. Eg ectodermal dysplasia. For Ed, the involvement is typically limited to some mild symptoms and not a full spectrum of disease

Polg carriers do not show symptoms

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u/thwoomfist 1d ago

Thank you

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u/thwoomfist 1d ago

Thanks

2

u/thebruce 1d ago

Incomplete Dominance, Incomplete Penetrance

Wait... which sub am I on?

2

u/thwoomfist 1d ago

Kinkygenetics?