Re: [MLUG - DISCUSSION] Holt-Oram Syndrome

["Jonathan King" <EMAIL:PROTECTED>]

On Wed, Mar 12, 2008 at 9:46 AM, Mike Miller <EMAIL:PROTECTED> wrote:
>
>  (2) New mutations causing dominant genetic diseases are more likely in
>  older fathers than in younger fathers, so the 1/100,000 might increase
>  several fold for your age group.  Nice paper on this topic:
>
>  http://taxa.epi.umn.edu/~mbmiller/journals/nat_rev_genet/200010_Crow_mutation.pdf

Interesting reference; thanks, Mike. After I responded last night it
did become clear to me that a lot of cases of this disorder are
apparently the result of a new mutation. But just to clarify: you mean
there is an increased risk for all of these new mutations in older
fathers, not that the risk of this specific mutation (if it is one) is
higher.

>  (3) We don't know if your son has the Holt-Oram syndrome, but even if he
>  does have it, he might be the only one in your family.  If he does have
>  it, *probably* half of his children would get it from him.

I would say "could". I am willing to believe that by the time kids
these days grow up that we may have the ability to reduce these risks
through creative uses of genetic engineering. That would be science
fiction right now, though.

>  The good thing is that analysis of the TBX5 gene should answer many of
>  your questions.  There are probably some researchers interested in
>  whatever problem your son has and they would probably help you, at least
>  by providing some genetic tests.

Indeed. I can try to find some of these people in case they aren't so
easy to locate.

>  My best wishes to you and your family,

Mine as well.

jking

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