What is a mutation?

A mutation is a little change in DNA. DNA is what makes up people and plants and everything in the world. A mutation can be little spelling mistakes within DNA, parts of DNA going missing or sometimes extra DNA.
When a tiny baby is developing its body will make mistakes with the DNA – that happens to everybody all the time! We don’t think that CMN is caused by anything that the Mum or the Dad did or didn’t do, it was just a chance mistake.

When babies are developing, cells are dividing and making new cells, so when those mutations happen, they quite often don’t have any effect on us. However, sometimes they are in very important genes.
Some years ago, many people had described lots of different little mutations in CMN, but we didn’t know if any of them had actually caused the CMN or if they were just in this CMN.

What we discovered, leading up to a paper we published in 2013, was what we felt confident was the cause of CMN. We were able to find the same mutation in either two different models, two different CMN in the same person or even in any problems in the brain in those people! That told us that the mutation we were looking at was likely to be the cause.

If you find the same mutation, in more than one place, in the same person, it is very unlikely to have happened by chance. Instead, it suggests that the cells have all developed from one original cell which had a mutation and then gave rise to the moles and to the brain problems.

This answer has been taken from a Q&A zoom session with Professor Veronica Kinsler, recorded in April 2020.
Please note this is an accurate answer at the time of recording. However, due to the continuing advancement in CMN research, it is important to seek current guidance and advice from a medical professional or by contacting Caring Matters Now. You can watch the full recorded session here.

Is there a connection between CMN in a child and an autoimmune condition in a parent?

No, we are not aware of any connection between these, we do not have any data to suggest that there has been a connection between CMN in a child and an autoimmune condition in a parent.

It has been previously published that there is quite a high number of parents, who have children with CMN, who have reported having thyroid problems. We are not sure why this connection existed as this was only one study which has not been repeated.

This answer has been taken from a Q&A zoom session with Professor Veronica Kinsler, recorded in April 2020.
Please note this is an accurate answer at the time of recording. However, due to the continuing advancement in CMN research, it is important to seek current guidance and advice from a medical professional or by contacting Caring Matters Now. You can watch the full recorded session here.

Does CMN relate to poor ovulation in females/ problems with fertility, hormones or periods?

There can be subtle hormone changes in people with CMN. There may be some minor hormonal changes in early childhood, but these changes don’t seem to affect going into puberty as normal or the ability to have children.

This answer has been taken from a Q&A zoom session with Professor Veronica Kinsler, recorded in April 2020.
Please note this is an accurate answer at the time of recording. However, due to the continuing advancement in CMN research, it is important to seek current guidance and advice from a medical professional or by contacting Caring Matters Now. You can watch the full recorded session here.

Does conception by IVF increase your chance of having CMN?

We did specifically look at this at one point in our cohort and we did not find increased rates of IVF in our cohort. It would be very difficult to say whether somebody who had had multiple embryos frozen, and one of them had had a CMN it would be very difficult to say what the chance was in the other.

This answer has been taken from a Q&A zoom session with Professor Veronica Kinsler, recorded in April 2020.
Please note this is an accurate answer at the time of recording. However, due to the continuing advancement in CMN research, it is important to seek current guidance and advice from a medical professional or by contacting Caring Matters Now. You can watch the full recorded session here.

Can CMN be diagnosed during pregnancy?

We haven’t seen any cases where the CMN has been diagnosed antenatally, although some families have reported seeing CMN in the ultrasound but not knowing what it was. If there is something on the back or the back of the neck in an ultrasound sometimes it would be measured, it can look a bit ‘thick’ if there’s a CMN. We don’t think that antenatal diagnosis is likely to become something that would happen regularly.

This answer has been taken from a Q&A zoom session with Professor Veronica Kinsler, recorded in April 2020.
Please note this is an accurate answer at the time of recording. However, due to the continuing advancement in CMN research, it is important to seek current guidance and advice from a medical professional or by contacting Caring Matters Now. You can watch the full recorded session here.

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