PDA

View Full Version : Genetic Link to Craniosynostosis.



hope
06-02-13, 00:53
A team working on the condition known as Craniosynostosis at the John Radcliffe Hospital in Oxford have identified two more genes linked to a percentage of those who have the condition.
Craniosynostosis occurs when the sutures between the plates of the skull close prematurely leaving little or no space for the growing brain. This can cause impairment of vision, headaches and perhaps mental development. It had been suspected that a genetic cause was probable in some cases [ where another family member also had the condition.]
Whilst this has now been shown to be the cause in only some of the cases, it does allow those who run the risk of passing it onto future children to be informed.

Below is the report taken from the Wellcome trust website.
-----------------


Andrew Wilkie, Nuffield Professor of Pathology at Oxford University and honorary consultant at Oxford University Hospitals NHS Trust, led the two studies published online today in the journal 'Nature Genetics'.

The studies were based on genetic data from more than 400 families treated at the specialist Craniofacial Unit at Oxford's John Radcliffe Hospital over a 20-year period. Every gene in the family members' DNA was sequenced in full at Oxford University, allowing the two new genetic causes of craniosynostosis to be identified.

About 1 in 2200 children is born with craniosynostosis, a condition where the sutures between the bony plates of the skull fuse together early, before the skull has finished growing, leading to an abnormally shaped head. In some cases, the fusing of the sutures does not leave enough space for the growing brain. This can increase pressure inside the skull, and can also cause hearing, vision and breathing difficulties.

About 21 per cent of craniosynostosis cases have a genetic diagnosis. The identification of two new genes that are linked to the disorder takes that to about 24 per cent. Mutations in the two new genes are believed to account for 1 to 2 per cent of craniosynostosis cases each.

Professor Wilkie said he believed that, in total, about 30 per cent of cases had a genetic cause, with the remaining 70 per cent partly attributable to physical events during pregnancy.

Instances of craniosynostosis with a genetic cause carry a risk of being inherited and, in most cases, are more severe forms of the disorder.

Identifying a genetic cause, and then grouping together patients with the same underlying condition, allows medical staff to identify specific characteristics in each case. It gives individual families a greater understanding of the condition and allows the treating consultants to be alert to potential future issues for a patient.

The new research identified a gene called ERF that was mutated in some cases of craniosynostosis and had not previously been linked to the disorder. The team found that in these cases, complications became apparent at around age four or five - this is much later in childhood than the majority of craniosynostosis conditions, which are apparent at, or shortly after, birth. Complications associated with mutations in the ERF gene then quickly become more serious if the condition is not recognised and treated.

Another gene, TCF12, was also found to be mutated in some cases of craniosynostosis. Patients with these mutations presented with complications almost immediately after birth and required surgery. However, these complications tailed off and most patients have a good long-term prognosis.

Professor Wilkie said: "If consultants know the underlying genetic cause then they know what to look out for and they have a case management plan that is alert to the possible complications.

"It is about being fully aware of the condition, the characteristics, the cause and risks including the risk of it being inherited."

Professor Wilkie, who in 1995 was the first to characterise Apert syndrome, one of the most severe craniosynostosis conditions, said the collaboration of Oxford University researchers and NHS medical professionals ensured Oxford remained a world-leading centre for research and treatment of the condition.

Professor Wilkie said: "There is a very close working relationship between surgeons, geneticists and the rest of the craniofacial team based at Oxford's John Radcliffe Hospital. This is only possible within the NHS.

"It is made possible by harnessing those strengths along with recent advances in genetics that allow us to sequence far more genes, more quickly.

"In the past couple of years, our team has discovered four new genetic types of craniosynostosis, and through ongoing research we are working on a further three.

"To put that in context, it is about equal to what the entire world effort has been able to describe in the past 20 years.”

The Craniofacial Unit at the John Radcliffe Hospital is one of four UK centres of excellence for the condition. The team worked in collaboration with colleagues at the other centres and the findings will be made available to all.

-----
-----
http://www.wellcome.ac.uk/News/2013/News/WTP051503.htm




The study was supported by the Wellcome Trust, with additional funding from the National Institute for Health Research Oxford Biomedical Research Centre, a collaboration between the Oxford University Hospitals NHS Trust and Oxford University.

LeBrok
09-02-13, 21:02
Interesting, never heard of such thing as Craniosynostosis. Do you think that mild forms of it could be responsible for most migraines?

hope
10-02-13, 00:16
Interesting, never heard of such thing as Craniosynostosis. Do you think that mild forms of it could be responsible for most migraines?

I`m not sure there are mild forms of Craniosynostosis per say Lebrok, but as a fellow migraine sufferer I can see why you might ask :)

As you know in infancy the growth of the brain depends on the sutures being open and unblocked. As the brain grows it pushes the sutures apart to allow the growth of the neurocranium. This naturally cannot happen if a baby has Craniosynostosis and can cause a misshapen head and irregular facial features [ apart from those other symptoms already mentioned in OP ].
There was a Canadian team working on new developments for operating, I remember reading an article about a year ago, but I can`t find a link to it now, sorry.
It was always suspected that a genetic mutation was responsible for some of the cases and this is what Professor Wilkie and his team have been working on for some time.
If I recall correctly it seems to affect males slightly more than females, but you might need to check this for verification.

LeBrok
10-02-13, 02:15
I wonder if there was a study comparing skull sizes of migraine sufferers? Perhaps showing that the smaller the skull, in relation to average or own body proportions, causing brain to be compressed too much. Possibly related to faster skull maturing and smaller size, by genetics. But I'm totally guessing now.
I couldn't find anything googling quickly on skull size and migraines though.

hope
10-02-13, 16:58
I wonder if there was a study comparing skull sizes of migraine sufferers? Perhaps showing that the smaller the skull, in relation to average or own body proportions, causing brain to be compressed too much. Possibly related to faster skull maturing and smaller size, by genetics. But I'm totally guessing now.
I couldn't find anything googling quickly on skull size and migraines though.


I have never come across any studies regarding skull size LeBrok.
Anything that I have read basically covers the usual symptoms and causes that we already know about.
It is a thought.

The Gheg
25-08-14, 15:32
i dont think there is a genetic link

abbas123
17-10-14, 10:29
I wonder if there was a study comparing skull sizes of migraine sufferers? Perhaps showing that the smaller the skull, in relation to average or own body proportions, causing brain to be compressed too much. Possibly related to faster skull maturing and smaller size, by genetics. But I'm totally guessing now.
I couldn't find anything googling quickly on skull size and migraines though.:smile::confused2:





____________________
abbas

abbas123
06-11-14, 21:52
I wonder if there was a study comparing skull sizes of migraine sufferers? Perhaps showing that the smaller the skull, in relation to average or own body proportions, causing brain to be compressed too much. Possibly related to faster skull maturing and smaller size, by genetics. But I'm totally guessing now.
I couldn't find anything googling quickly on skull size and migraines though.:smile::confused2:

LeBrok
11-11-14, 17:15
I wonder if there was a study comparing skull sizes of migraine sufferers? Perhaps showing that the smaller the skull, in relation to average or own body proportions, causing brain to be compressed too much. Possibly related to faster skull maturing and smaller size, by genetics. But I'm totally guessing now.
I couldn't find anything googling quickly on skull size and migraines though.:smile::confused2:
I could find anything either. Judging by skull size, migraine sufferers in my family have smaller skull size.