Beckwith Wiedemann and Autism

Writing about Beckwith Wiedemann today made me remember that several years back I saw an abstract of a study proposing a link between BWS and autism being done at Cambridge University.  I went looking for it to see how it turned out, but had no luck.

However, I did find this article.  Here’s the important part:

The classic example of an imprinted gene is IGF2, which codes for a growth hormone. Its effect is to make a baby bigger–something that benefits the father’s genes invested in it but is at a cost to the mother, who has to gestate and give birth to it. So perhaps not surprisingly, the mother’s copy of IGF2 is normally imprinted, or silenced, and only the father’s is expressed. IGF2 is up-regulated in ASD, and in Beckwith-Wiedemann syndrome (an over-growth disorder where both parents’ IGF2 is expressed) incidence of ASD is seven times normal.

fascinating!  I’m going to keep poking around.  BWS is relatively obscure, last stats I heard was that it’s occurence is 1 in 15,000 births.  If anyone knows of a study or a site linking bws and asd, I’d love to hear about it.

Published in: on March 23, 2010 at 8:35 pm  Comments (4)  

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4 CommentsLeave a comment

    • Thank you, Tanya – this is exactly what I was looking for!

  1. I need to correspond with you! My son is three and he has BWS and was just recently (last week) diagnosed as possibly having Autism as well. I was searching for information and saw your blog. Is there a way I can talk with you directly??? I am very new to blogging and do not know how to contact you.

  2. You can contact me via e-mail or I can contact you another way (telephone, texting, etc.) – I just really want to discuss some concerns with you and get your advice! Thank you for considering my request.

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