Autism Link of the day - Deletion syndrome

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Searching for genetic links between autism and other disorders

I took a genetic test at 23&Me, which amazingly gives you online access to the raw DNA data for your entire genome, as well as lots of graphs and charts that tell you where you fit in among other humans who have taken genome tests. All that is interesting, and they include an estimate for Neanderthal genes also. Me: 2.9% Nandy, as I now affectionately call us/them.

Then, I got busy with my raw data, a searchable database where you can search for any gene on any chromosomes to see what allele combination you have for each, or, if you have the gene at all. All you need is the name of the gene. They have cute little names like, CLDN4 and VPS37D, both of which I seem to be missing. It's really quite astonishing, and it cost $99.

But my point here is that I discovered apparent deletions on chromosome 7 in the region associated with Williams Syndrome, (but no deletion of the genes that have to be missing for a WS diagnosis, only other nearby ones). I asked my doctor about it, but he said we'd have to do a more comprehensive gene test at a cost of $1,200, which I can't afford.

I don't know what it means, or even if its definitely true and not a mistake of some kind at 23&Me, but maybe others out there have done this test and can examine their own genes in this area of chromosome 7, or the genes mentioned in this article, or others that may be associated with AS. If anyone is interested, you can PM me for a list of the associated genes where I found deletions in myself at 7q11.23 region. It took quite a bit of research to make the list, happy to pass it on to other home-genetisists

How did you get your raw data from them did they tell you the deletion or did you find it yourself. Through a different site? ill do some reaserch for you in the morning this is actually an interest of mine I've been meaning to get into.

Hi Ravenclawgurl,
The raw data is available on the 23 and Me website. You (the customer) just logs on and goes to the Raw Data page. This is a searchable data base, very easy to use. You only need the name of the gene. You enter that, and it comes up with the allele combinations for every SNP (single neucleotide polymorphism, or essentially, allele combination) you have on that gene. It does require some basic understanding of genetics. Like you have to understand allele combinations. As long as you know that, and the name of the gene, then you can search and look directly at the SNPs you have on that gene and which allele combination you have.

Shortly before I had the test done, I watched a documentary on autism related conditions which included an in-depth presentation on Williams Syndrome (WS). Then, I researched online which genes are involved with Williams Syndrome. It was not hard to find databases with this info. When the test results were in, I searched my genome at 23&Me and discovered missing genes overlapping with the WS area - although not the two or three genes critical for a WS diagnosis. I do not have WS, but I do have an AS diagnosis, although it seems, somewhat atypical. So, I wonder if it is connected to these gene deletions and if anyone else out there who has a 23&me account can check their genome. I can provide gene names.

The websites where I looked up gene information are the Gene Card Human Gene Database, Weizman Institute of Science and an article published online from European Journal of Human Genetics, Jan. 18 2010 which has an image of the gene sequence in 7q.11.23 where Williams syndrome deletions are located.