1. Patients launch $1.27 million crowdfunding campaign for ME/CFS gut microbiome study.
    Check out the website, Facebook and Twitter. Join in donate and spread the word!
Phoenix Rising Adds Two New Board Members
Mark Berry introduces the new President of Phoenix Rising, Dr. Gary Solomon, and welcomes Professor Jonathan Edwards to the Phoenix Rising Board of Directors.
Discuss the article on the Forums.

Please Help to interpret my 6 year olds 23andme results, lots of mutations!!

Discussion in 'Genetic Testing and SNPs' started by Harriet turner, Apr 12, 2014.

  1. Harriet turner

    Harriet turner

    Messages:
    15
    Likes:
    4
    Sutton Coldfield
    Hi,

    My son is autistic, struggles with self-control, behaviour, thinking before acting, social skills, etc. he also has a rare genetic condition called Ectodermal Dysplasia. He has been on gaps diet for 18 months, the first year mainly early intro of boiled meat, veg and stock. We've been down to one meat and veg thinking it could be food related, took out all orange veg, did NAET therapy, homeopathy, CEASE therapy for vaccines, Bowen therapy, cranial osteopathy. He's taken all the recommended supplements and advice on great products food off other gaps parents. DE, clay, GAPS shakes, ox bile, ovex, sach Boulardii, HCL, digestive enzymes. I'm at a total loss. I don't want to give up on my beautiful little boy trapped inside. And I'm so worried my youngest son is following his path.

    Any advice would be so very much appreciated.

    Thank you

    Harriet image.jpg
    merylg and Valentijn like this.
  2. Valentijn

    Valentijn Activity Level: 3

    Messages:
    6,254
    Likes:
    8,906
    Amersfoort, Netherlands
    Has he tried B12? MTRR A66G +/+ means he's very bad at recycling one form of it, and supplementing it might help.

    Due to slow COMT, VDR, and MAOA (which use up methyl groups) he might not tolerate additional methyl groups very well and HydroxoB12 could work better for him than MethylB12. HydroxoB12 is also less risky, since methylB12 can cause serious potassium complications, which might be especially hard to detect in time with a young child who is also autistic.
    merylg likes this.
  3. Harriet turner

    Harriet turner

    Messages:
    15
    Likes:
    4
    Sutton Coldfield
    hi Valentijn,

    Thank you for your reply. I haven't tried B12, mainly because gaps practitioner wasn't sure how well he would deal with B vitamins and because he has no B vitamins that are within the normal range and B12 wasn't the worst one. His most desperate needed B vits were B1 and B2, followed closely by B6, followed by B12 and B9 and then B7 and B3.

    Glad to know which is the best B12 supplement to use though. Would you recommend trying this first? Or trying to find suitable ones that will help his other B vits? Is there one that suits a multi B vitamin? Is there anything I should avoid food wise or supplement wise? I'm so confused whether his strict gaps diet is good or bad for him.

    Harriet
  4. Valentijn

    Valentijn Activity Level: 3

    Messages:
    6,254
    Likes:
    8,906
    Amersfoort, Netherlands
    HydroxoB12 is rarely used in multi-vitamins - it's not the cheap version, or an active version. I get mine from a Dutch company, Bloem, but there might be more English-friendly sources as well. There are probably others here who are a lot more knowledgeable in this area, but I think it's generally good to be getting the other B vitamins as well when taking B12.

    I'm not really familiar with GAPS, but as long it's got a good variety of proteins, fats, vitamins, and minerals, I can't imagine it would cause any problems.
  5. Valentijn

    Valentijn Activity Level: 3

    Messages:
    6,254
    Likes:
    8,906
    Amersfoort, Netherlands
    @Harriet turner - Something else you can do is download http://sourceforge.net/projects/analyzemygenes/ and run his unzipped raw results (a text file) through it. It will show any rare mutations, and might turn up something useful - maybe even with regards to his Ectodermal Dysplasia, as that's a group of genetic disorders.
    merylg and Harriet turner like this.
  6. Harriet turner

    Harriet turner

    Messages:
    15
    Likes:
    4
    Sutton Coldfield

    Thank you, ill have a look at that now :)
  7. tdog333

    tdog333 Senior Member

    Messages:
    113
    Likes:
    63
    I just ran mine through for kicks, anyone else have rs4810343 homozygous? I doubt it but never know :D
  8. Harriet turner

    Harriet turner

    Messages:
    15
    Likes:
    4
    Sutton Coldfield
    I can't get it to work. How did you do it tdog333? I'm pulling my hair out currently, even my husband can't get it to work :-s
  9. Harriet turner

    Harriet turner

    Messages:
    15
    Likes:
    4
    Sutton Coldfield
    Hurray, think we did it :)
    he has rare rs17302526 Homozygous
    And a whole list of other SNPs that aren't homozygous, what are these? What do these mean?
  10. SOC

    SOC Moderator and Senior Member

    Messages:
    5,291
    Likes:
    6,277
    USA
    Here's a sublingual (the best way to take B12, imo) hydroxoB12 that we use and are happy with. It takes about 30 minutes to dissolve under the tongue. You'd need to check dosage for a 6yo with autism. My guess is one tablet twice a week would be enough, but I'm not sure if high doses of B12 is recommended for autism.
    Last edited: Apr 13, 2014
    Valentijn likes this.
  11. Valentijn

    Valentijn Activity Level: 3

    Messages:
    6,254
    Likes:
    8,906
    Amersfoort, Netherlands
    I think you forgot to include the link :rofl:
  12. Valentijn

    Valentijn Activity Level: 3

    Messages:
    6,254
    Likes:
    8,906
    Amersfoort, Netherlands
    You can look up the SNP at dbSNP, and it shows this: http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=rs17302526

    The name of the gene for that SNP is listed below (often times the SNPs are between genes instead of on one): TRIO. Unfortunately the link there for TRIO doesn't have any info about its function, but genecards has some more data at http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIO . But there's no indication that this SNP causes any problems, and it's normal to have a some very rare results.

    Are there any results from the gene analyzer program which start with "i" instead of "rs"? "i" can often indicate an allele known to cause problems, and some will do so even when just heterozygous.
    Harriet turner likes this.
  13. SOC

    SOC Moderator and Senior Member

    Messages:
    5,291
    Likes:
    6,277
    USA
    :bang-head::bang-head: :rofl:
    I've fixed it.

    The worst part is not that I forgot it, but that I actually searched for it, copied the link and still forgot to put the link in. :rolleyes::rofl:
    Harriet turner and Valentijn like this.
  14. Harriet turner

    Harriet turner

    Messages:
    15
    Likes:
    4
    Sutton Coldfield
    Thank you, I'll see if this is available to purchase in UK. X

  15. Harriet turner

    Harriet turner

    Messages:
    15
    Likes:
    4
    Sutton Coldfield
    Thank you Valentijn. I never would have found that without your help, as I did a search and it bought nothing up.

    He has two i rare genes
    i5012759 and
    i3002507

    and lots of rs ones, ill link his results



    Attached Files:

    Valentijn likes this.
  16. Valentijn

    Valentijn Activity Level: 3

    Messages:
    6,254
    Likes:
    8,906
    Amersfoort, Netherlands
    i5012759 is rs77931234 and it's located on the ACADM gene. The G allele creates a pathogenic missense mutation. Typically this only causes problems when homozygous, but can also cause problems if heterozygous when there's another heterozygous pathogenic missense mutation on the same gene. When homozygous it results in Medium-chain acyl-CoA dehydrogenase deficiency - it doesn't always show up at birth, and symptoms can be triggered by metabolic stress.

    Some more genetic data about the mutation is at http://omim.org/entry/607008?search=acadm&highlight=acadm#0001 , and it can be tested for if it looks like something which might be of concern. http://ghr.nlm.nih.gov/condition/medium-chain-acyl-coa-dehydrogenase-deficiency is also a bit easier to read than the wikipedia entry linked to above.

    rs11550605 is a missense mutation on the GSTT1 gene, which is involved in using glutathione for detoxification of certain substances. It looks like this mutation causes reduced activity, but it's not clear how much, or if being heterozygous has an impact.

    i3002507 is rs1805009, and the C allele creates a "pathogenic" missense mutation on the TUBB3 gene. I'm afraid it may mean that your son is predisposed to being ... Ginger :rolleyes: No idea why that one is marked as pathogenic, but it's always good for a laugh when it turns up!
    Harriet turner likes this.
  17. Harriet turner

    Harriet turner

    Messages:
    15
    Likes:
    4
    Sutton Coldfield
    Hi Valentijn,

    I have had mine and my eldest sons results back and I ran them through genetic genie and your rare gene programme. me and Josh have i5012759 like Archie which you gave me great information about. Thank you.

    I was wondering do you know anything about or where I can find info on: rs831627 homozygous (me) i5900756 and i3002507 (all mine). Or RS4926123 homozygous or i4001498 (Josh's)

    Thank you so much

    Harriet


    Or
  18. Valentijn

    Valentijn Activity Level: 3

    Messages:
    6,254
    Likes:
    8,906
    Amersfoort, Netherlands
    There's no research regarding rs831627 but a gene description is at http://www.ncbi.nlm.nih.gov/gene?cmd=Retrieve&dopt=Graphics&list_uids=966 . There's no indication that it's a missense mutation or other mutation likely to be harmful.

    rs4926123 isn't on a gene, hence probably can't have much of an impact. There's also no data available for the nearest gene, DNAJB1.

    i5900756 is rs142934616 on the PAH gene, and is a missense mutation. But there's been no research regarding that SNP. The gene info is at http://www.ncbi.nlm.nih.gov/gene?cmd=Retrieve&dopt=Graphics&list_uids=5053 , and homozygous mutations can cause phenylketonuria, but there's no way to know if this SNP does.

    It looks like i3002507 is rs1805009, which is a missense mutation on MC1R. It's listed as pathogenic, but fortunately the "disease" is just red hair and/or fair skin :p

    i4001498 is rs76210340 near CYP2D6: http://www.ncbi.nlm.nih.gov/gene?cmd=Retrieve&dopt=Graphics&list_uids=1565 . Again, the SNP is not on the gene itself, so probably not having much impact.
  19. Harriet turner

    Harriet turner

    Messages:
    15
    Likes:
    4
    Sutton Coldfield
    Thank you kindly :) lol, our family seem to carry a lot of the red and ginger genes then ;-) what a disease. Lol.

    At least now once I've read through links I can focus on our methylation and detox results. Which is most important?

    Thank you

    Harriet

  20. Harriet turner

    Harriet turner

    Messages:
    15
    Likes:
    4
    Sutton Coldfield
    Can anyone tell me what I need to look at first and where to go with my eldests sons results? He has MTHFR C677T AA plus many other mutations. I will post up his results underneath. My gaps practitioner can only help with MTHFR and I don't think this will help, as its not looking at the whole picture. I don't know how to tag people in the post? Thanks xx

    image.jpg

See more popular forum discussions.

Share This Page