Today we met with our genetic Doctor who unfortunately was not able to give us much more insight on 17q12 Microduplication Syndrome. However, I kind of anticipated this since most of my research pointed to what little is known about this genomic mutation, which was only just recently discovered in 2006. What we did learn today is that the "12" is not twelve, it's one - two in the genetic world, and that further testing of Jack's DNA can be done so that we can find out where exactly the extra material of this chromosome is. Sometimes the extra material on the chromosome can be right next to the original one, called "in tandem", while in other cases it can actually fall into a completely different chromosome, referred to as an unbalanced insertion or translocation to another chromosome, knowing this could possibly give us more insight on what lies ahead for Jack.
This is only my PERSONAL summation of the research I have done on 17q12 Microduplication and is only intended to be helpful insight, especially if Google is not your best friend and reading research case studies is not your forte. Jack's exact diagnosis is a 1.4mb (megabase) of extra genomic material found on chromosome 17. The exact location is the long arm of the chromosome also known as "the q arm" on the portion known as one two, hence 17q12. The one two portion of this chromosome is what has been duplicated and therefore the actual genes contained inside this portion have been duplicated. According to the test results 19 of Jack's genes have been duplicated. Exactly what roles all these genes play is not known. However, two common genes in this area are HNF1B and ACACA. HNF1B is found in and plays a role in the development of the pancreas, liver, stomach and lung. Known diseases related to this mutated gene are various kidney diseases, diabetes syndrome and noninsulin-dependent diabetes mellitus. It actually appears to be a "common" characteristic for people with this mutation to have kidney issues and diabetes. While ACACA is a protein coding gene and is found through out the body and plays a role in metabolism, specifically fatty acids, glucose/energy, lipids and ketone body metabolism, just to name a few. But I have yet to find any relevance to this gene in my research, although I have not done any research with relation to the deletion of the 17q12 chromosome. With all this being said, there is so much information out there about these two genes, I am merely summarizing what I have read and can "ugh" understand! By no means should any of this information be used in place of any information you receive from a doctor. I am merely trying to give some examples of the known genes that CAN OR MIGHT be affected.
While in reality little is known about all the exact genes located in 17q12 and what roles they play in the big picture, more research needs to be done on this exact area of chromosome 17. What they do know is that there are several known traits or characteristics with this duplication. Some of the characteristics are intellectual disability, cognitive development, speech and language delay, sleep issues/disorders, behavioral difficulties; i.e. aggressive behaviors, or self-injurious behavior, gross motor delay, all of which can be directly linked to autism, also seizures/epilepsy, hypotonia, cleft palate, glaucoma; and afflicted tissues of the eye, tracheo-esophageal fistula and defect in the atrial septum. Because of this diverse range of traits and the rarity of this genomic mutation, it's easy to see why more research needs to be done. Which is why we have chosen to participate in the 17q12 Project Research program based out of the Geisinger's Autism and Developmental Medicine Institute in Philadelphia. See link below for more useful information about this project.
If you are looking for a cause you won't find one, although as a parent you may be a carrier. My husband and I both will be tested in the near future to see if one of us may in fact be the carrier. What's so incredible about this mutation is that so many people can live completely unaffected lives, with no characteristics whatsoever. The other anomaly is the de novo aspect, where neither parent is the carrier. All in all, it's rare, its diverse and they "geneticists", know very little as to the why or the how, but hopefully as research continues and new technology emerges, we will know more, we will one day get answers. We are the pioneers for 17q12, and for all genomic mutations for that matter, and I encourage anyone who has or cares for someone with a genomic mutation to get involved in research programs, even though it may be a small part of a future understanding, we can help. Personally, I know that this will affect my future family, Jack is a carrier and some day he will most certainly pass this on and I want him and his children, my grandchildren, to have more information than I do!
Even though we did not learn much more about this chromosome duplication or what the future holds for our little man Jack, what we do know is that by the grace of God, he presents only the moderate to mild autism related characteristics of this mutation, and we will continue to claim via God, that nothing else will manifest. I will, say it is very difficult reading about this mutation and not knowing the future is frustrating and frightening. However, I will continue to stay positive and completely grateful for where we are today.
If you or someone you love has been diagnosed I have included a few links that I have found very useful while trying to research 17q12 Microduplication Syndrome. Also on Facebook there is a closed group called Chromosome 17q12 support group, and consists of both the deletion and duplication of 17q12, connecting with other parents has really been a useful resource, for not only trying to understand the mutation but to also to know that although it's rare, we are not alone.
Hugs from a fellow warrior,
Em
Links:
Also see link to Unique on the right of this blog!
this has been very informative thank you
ReplyDeleteI apologize that only now have seen your message! Thank you, my sole goal is to inform anyone who has recently been diagnosed you are not alone. I'm glad you found it informative.
ReplyDeleteWe have just received our sons genetic results. I am so please I've come across this thank you. My mind is so baffled at the moment but reading your blog has has helped. My son also is being tested for autism next month. Thank you xx
ReplyDeleteI'm so glad you found it helpful! It's so overwhelming at first, I completely understand! Hang in there momma it gets easier! xx
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