Re: [MLUG - DISCUSSION] Holt-Oram Syndrome

["Jonathan King" <EMAIL:PROTECTED>]

On Wed, Mar 12, 2008 at 10:08 PM, Mike Miller <EMAIL:PROTECTED> wrote:
> On Wed, 12 Mar 2008, Vern Green wrote:
>
>  > I promised to upload some pictures tonight, here they are on Picasa:
>  >
>  > http://picasaweb.google.com/hayvern/JeremySHands
>
>  The left thumb is "nonopposable" and "finger like" -- those are the terms
>  I'm seeing for that kind of thing in OMIM.  Certainly there are not many
>  known conditions that cause that trait and Holt-Oram is one of those
>  conditions.

I don't know if there are really any others that also account for the
cardiac symptoms.

>  Do you have good health insurance?  I'm surprised that they didn't do a
>  more thorough workup.  Did they do any cytogenetic analysis?  In this case
>  they can go straight to chromosome 12 (12q24.1) and look for mutations in
>  the TBX5 gene.

OK, but the gene is like 47 kilobp and there are lots of known point
mutations. They might have done a full karyotype, but that might not
have shown anything, there are lots of things that can cause heart
issues, and the hand issue, although visible, is pretty subtle.
Holt-Oram is a rare disorder.

> I would have thought that cytogenetic analysis would
>  always be ordered when idiopathic heart defects are seen, but it isn't my
>  area.

Nor mine, but see above. Do you have some specific test in mind here?

>  > You might also notice another genetic trait. This one he and I clearly
>  > share, as does my older son, my sister, and I think my mother. We all
>  > had the crooked little finger. I do not think that trait is tied in
>  > anyway to what we are seeing here with Holt-Oram, but maybe I am wrong.
>
>  I don't know.  Is it only on your left hand?  Sometimes the same gene will
>  cause mild symptoms in some family members and more severe pathologies in
>  others.

Crooked little finger seems to be reported as a distinct disorder, but
I couldn't find it tied to any specific genes.

jking

_______________________________________________
discussion mailing list
EMAIL:PROTECTED
http://mlug.missouri.edu/mailman/listinfo/discussion