Beck–Fahrner syndrome as a cause for Autism?

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I was a volunteer patient at NIH (National Institutes of Health) in Bethesda, Maryland, earlier this year, for a drug trial. I was inpatient for 5 weeks.

At the end of the trial in early April, I also volunteered to donate a DNA sample to have my entire genome sequenced, and have the results put in a research database.

Yesterday, I spoke with a genetic counselor at NIH about the results.

It turns out that I have a "one of a kind" mutation on the TET3 gene.
Some other mutations of the TET3 gene are known to cause Beck-Fahrner syndrome, which was only first described in 2020, I think.

There are no records of the specific mutation I have in the huge genome database or the medical literature.

I do show quite a few of the symptoms of Beck-Fahrner, to varying degrees. There are only perhaps 30-50 diagnosed cases worldwide, so far, so the diagnostic criteria is still VERY much open to further study.

Autism and ADHD are among the many known associated symptoms. But as with many other genetic syndromes, symptoms can vary widely in presence and severity.

I may end up a Guinea pig again, soon, if Doctor Fahrner at Johns Hopkins wants to poke and prod at me in person.

There is apparently now a blood test that will reveal if I actually have the syndrome, which affects a very wide range of genes.

NIH didn't look for sex chromosome variations apparently, but there's a lot of overlap between Beck-Fahrner and the 47,XYY sex chromosome variant I think I MAY have, so inquiries are being made, if only for proper differential diagnosis reasons.

Additional info:

https://en.wikipedia.org/wiki/Beck%E2%80%93Fahrner_syndrome

https://www.abc.net.au/news/2024-11-05/act-beck-fahrner-syndrome-rare-genetic-disorder-awareness/104558080

https://www.youtube.com/@befahrs

I'll add Back-Fahrner Syndrome to my list of alleged causes for ASDs.

Beck–Fahrner syndrome is recognized as a cause of some cases of autism.

This morning, I heard back from the genetic counselor at NIH.
The doctor at Johns Hopkins is willing to see me for an evaluation, so I hope to speak with her soon to arrange this

I'm 110% positive I do not have this disorder. Obviously, I developed ASD because it was God's punishment to my parents from having me vaccinated as a kid.
Or because I watched Smurfs and Care Bears.
Or the non-stick coating on frying pans.

Only about 30 people in the world have so far been identified with Beck-Fahrner syndrome, while millions are autistic, so it seems an unlikely theory - particularly as one of the criteria for B-F is intellectual handicap: a solid majority of AS people are not intellectually handicapped at all.

So a particular mutation gives autistic traits enough to qualify for a diagnosis.

So is trauma and everything that follows through emotional neglect to do disruptive behaviors.


If the argument is that because the majority of those with that particular mutation has autism -- it doesn't mean all autistics have that particular mutation.

Yet and yet the majority of autistics has trauma, yet do all of those struggling with trauma and emotional neglect are all autistic? Obviously not.



Lol.
Just another overlap trait checklist.
I collect them like how some collect "causes of autism".

Just like ADHD with executive dysfunction, just like social anxiety with crappy socialization experience, just like OCD with repetitive behaviors, just like alexithymia with particular emotionality, just like NVLD with a specific cognitive profile, just like eating disorders and whatever gustatory sensitivity, etc.


The closest thing I'd consider is that that particular mutation is a very specific "type of autism" out of countless autisms.

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Oops, I really screwed the pooch with THAT poorly worded thread title...


I didn't mean to imply that Beck Fahrner's may be "the" cause of Autism, only that it seems to be ONE of the possible causes. And the high correlation is only interesting, and spurs further inquiry, and is not causation, of course...

Regarding one of the symptoms being a cognitive deficit, a careful reading of the literature shows that although there is a very high correlation, not ALL patients will show this symptom.

And given that I have a TET3 mutation that is as of yet unique (out of hundreds of thousands of full genomes in the linked databases), perhaps this specific mutation will end up being known to show a zero, lesser, or Hell, even INVERSE correlation with cognitive scores?

I won't even know if I have the syndrome until further testing, such as the blood test that indicates an excess of DNA methylation.

While it does give autistic traits... (I'm not so big over traits)


Does it come with other common issues outside cognitive and psychosocial issues?

Sensory processing issues (hyper- hypo- sensory seeking/avoidant), digestive issues, repetitive behaviors, emotional affect...


Since I cannot go for cognitive related issues like communication; receptive and expressive...
Or executive function issues that do come with learning disabilities.
Or reactions of common social adverse circumstances -- even NTs and allistic alike definitely get them.



Is the trait gain over lap like a 50%± because of diagnostic criteria or a 50%± assurance that anyone with said mutation will be either a type of autistic or become an ND allistic with said type of autistic traits?

If it's the former, again -- this is just like people who are considering ADHD as a part of the autistic spectrum without considering there is such thing as allistic ADHD, or people who kept thinking anxiety is always or should be a part of autism diagnosis and not a separate human reaction to ND crappy circumstances all because it's more relatable.

The latter is like twins studies.

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https://www.ncbi.nlm.nih.gov/books/NBK591837/

fascinating, I had not heard of this genetic disorder before, thanks for the input!

I just heard from the Doctor at Johns Hopkins:

"Hello,

I hope you are well. Thank you for reaching out, for sending your genetic test results, and for your potential interest in our research.

The goal of our research is to better understand all aspects of Beck-Fahrner syndrome/TET3 deficiency so that we can identify and study treatments. The main parts of the research are: (1) Collecting medical history/clinical data to better understand the general features of Beck-Fahrner syndrome/TET3 deficiency; (2) Performing detailed developmental/neuropsychological testing to focus in on and better understand the neurological aspects of Beck-Fahrner syndrome/TET3 deficiency; (3) DNA methylation testing of blood to evaluate for the DNA methylation profile consistent with Beck-Fahrner syndrome. It is important to mention that testing DNA methylation on a research basis may take years to get results back. You can participate in whatever parts of the research you would like.

Separate from research, we have a specialized multi-disciplinary Epigenetics and Chromatin Clinic here at Johns Hopkins if you would be interested in being evaluated to our clinic. You would be evaluated by me (geneticist), Dr. Jacqueline Harris (pediatric neurologist/neurodevelopmental specialist), and Ms. Jacquelyn Britton (genetic counselor). In some cases and if the diagnosis is confirmed, developmental/ neuropsychological testing with our colleague, Dr. Rowena Ng (neuropsychologist) may be possible. We have all seen many individuals with Beck-Fahrner syndrome.

Please let me know if you would be interested in pursuing any of the above options. At this point I agree that you have a variant of uncertain significance in the TET3 gene. Thus, I cannot currently say whether or not you have Beck-Fahrner syndrome without additional information/evaluation. A local geneticist (or possibly us if you come to see us in clinic) could perform DNA methylation testing on a clinical basis with a test called Episign to confirm the diagnosis if that is something you are interested in. Thank you very much for reaching out, and please let us know how we can help.

All the best,
Dr. Fahrner"