For now, our community is small. I am not a medical doctor, but I am a determined mother of a child with a CTCF related disorder. We got our diagnosis in August of 2019 and there was very little on the internet about it, so I started searching. I have emailed many doctors, labs, hospitals, etc. trying to get more information and meet more families like mine. I created a Facebook group for families and another for interested doctors and families. I have been advocating for more research and hoping to educate the world. I wanted to share what I have learned to hopefully help others. It is just in the beginning stages, but I am hoping to start a non-profit and get recognized by N.O.R.D./G.A.R.D. All of this just written in my mama terms. It may not be exact, but it is my understanding. If you feel something is incorrect or you have a question/concern feel free to email me at firstname.lastname@example.org.
What is CTCF related disorder?
In my mama terms, not medical terms, It is my understanding that CTCF related disorder is a medical issue caused by a mutation in the CTCF gene. The CTCF gene carries the instructions on making the CTCF proteins. CTCF proteins are regulators for all other dna instructions in the body. That is why people with ctcf mutations can be affected in so many areas. I was told by a researcher friend to think of CTCF as a hand with 11 fingers trying to complete a task. Each of the different fingers have different responsibilities in each interaction. A cut on your pinky is going to cause different interactions than missing half of a thumb, for example. That is why there is such a wide variety of symptoms amongst people with CTCF mutations. Fingers 4-8 seem to be the most involved (like the index and thumb for example). Also deletions and duplications seem to have the most severe symptoms in comparison to missense mutations. Most cases are considered de novo, not inherited from either parent, but there are a couple inherited cases. So in those de novo mutations the mutation happened at conception so neither parent did anything wrong. (It took me a while to stop looking for reasons, even after being told.) Right now, these mutations are considered incredibly rare, but they may be more common than we think. Testing has not been available until recently and is expensive. It is not always covered by insurance. In our case, we had pay because it was considered exploratory, but it was worth it to finally get a diagnosis. It appears to me after reading all current research, knowing my friends in the family support group, and looking at lab databases that there are somewhere around 100-150 cases world wide, some published and some not. There are currently 40 published cases of CTCF, but there are entries in Clinvar with other cases plus many families in the support group that have not been documented. The youngest case that I know is 4 months old and the oldest is 33 years old. I think that answers most FAQ. I am not an expert, but I read often and ask lots of questions to doctors all over the world.
Please note that these are just possible symptoms. Most came from the "CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum", but some are also from our parent group.
Prenatal growth anomalies such as IUGR/SGA
Feeding difficulties/failure to thrive
ID/dev delay (mild/moderate/severe)
Behavioural anomalies (Autism/ADHD)
Neurological anomalies (Seizures/Tics)
Cleft palate/palatal anomalies
Facial dysmorphism (More common ones: lower set ears, thin upper lip, deep set eyes, eye folds, and just very cute.)