Re: [MLUG - DISCUSSION] Holt-Oram Syndrome

["Jonathan King" <EMAIL:PROTECTED>]

On Wed, Mar 12, 2008 at 10:56 PM, Mike Miller <EMAIL:PROTECTED> wrote:
>
>  They should look into Holt-Oram for you.  Apparently, there are strict
>  clinical diagnostic criteria that can almost always rule out kids who do
>  not have TBX5 mutations:
>
>  http://www.ncbi.nlm.nih.gov/pubmed/16183809
>  http://www.ncbi.nlm.nih.gov/pubmed/17534187
>
>  I don't know a thing about "radial ray deformities", but it sounds like
>  that is thing to study before looking for TBX5 mutations.  Or maybe the
>  nonopposable thumb *is* a radial ray defect.

It is. As is preaxial polydactyly. (OK; "radial ray" refers to the
part of the limb that is on the same side of arm as the radius rather
than the ulna [two bones in the forearm] which describes the thumb;
"preaxial" seems to be referring to the same thing.)

>  Kids who meet strict criteria have identifiable TBX5 mutations about 1/2
>  to 3/4 of the time, but there might be more mutations yet to be discovered
>  that will increase that percentage:
>
>  http://www.ncbi.nlm.nih.gov/pubmed/16917909

There are *always* more mutations yet to be discovered, alas.

jking

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