Re: [MLUG - DISCUSSION] Holt-Oram Syndrome

[Mike Miller <EMAIL:PROTECTED>]

On Wed, 12 Mar 2008, Jonathan King wrote:

> 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.

Right.  It really is looking like Holt-Oram but there could be a lot that 
I don't know.


> > 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.

They definitely wouldn't normally find Holt-Oram from the cytogenetics, 
but they would have been looking for other things like small insertions or 
deletions.  They probably did that and found nothing.


> > 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?

Just what I just added above.  The usual screening for micro 
insertion/deletion.  I would expect them to do this for any congenital 
malformation of unknown etiology.  I would want it done if the kid had a 
funny-looking face.

Mike

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