Re: [MLUG - DISCUSSION] Holt-Oram Syndrome

[Mike Miller <EMAIL:PROTECTED>]

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.

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


> 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.

Mike

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