Beckwith-Wiedemann Syndrome | Action Medical Research | Children's Charity | Children's Charity

Beckwith-Wiedemann syndrome: can genetics help predict how a child’s illness will progress?

First published on 23 October 2009

Updated on 8 July 2015

What did the project achieve?

“Our work has improved understanding of the genetic changes that cause a rare condition called Beckwith-Wiedemann syndrome,” says Professor Eamonn Maher of the University of Cambridge.

Babies with Beckwith-Wiedemann syndrome tend to be much larger than average and are often born prematurely. They can have a range of different birth defects and some are at risk of childhood cancers, along with other health problems.

“Before starting this project, we already knew that babies with Beckwith-Wiedemann syndrome have changes in a special class of genes – called imprinted genes – that play a key role in growth and development,” says Professor Maher. “Some of the changes affect whether these genes are turned on or off. We investigated whether those kinds of changes are localised to specific areas of the children’s DNA or more widespread. We found that in some children they can be more widespread than had previously been identified.”

“We’ve also been studying the relationship between genetic changes and the symptoms children experience,” continues Professor Maher. “Our findings so far could improve diagnosis of Beckwith-Wiedemann syndrome, by helping doctors to decide when to recommend genetic tests. We hope our on-going studies will lead to better care for children with Beckwith-Wiedemann syndrome and improve their lives.”

This research was completed on 1 September 2013

Beckwith-Wiedemann syndrome affects the growth and development of babies. Affected babies are much larger than average and are often born prematurely. They can suffer a range of birth defects and are at risk of childhood cancers. Some cases may have links with fertility treatment. Researchers are investigating the genetic causes of Beckwith-Wiedemann syndrome. They hope to find ways to predict which babies are most at risk of developing specific complications, including cancer, so they can receive appropriate treatment early.

What's the problem and who does it affect?

A range of birth defects

Babies with Beckwith-Wiedemann syndrome are larger than average. Their large size puts them at risk of premature birth and a difficult delivery.

The babies may also suffer birth defects and complications. Many have an enlarged tongue, for example, and their abdominal wall can be abnormal. Their blood sugar levels can drop dangerously low and they have significantly increased chances of developing certain childhood cancers, including kidney tumours.

The researchers who are working on this project estimate that around 50 new cases of Beckwith-Wiedemann syndrome are diagnosed each year in the UK. Treatments, including surgery, can be effective, though some depend on early detection of a baby’s individual health problems. Low blood sugar, for example, can cause seizures and brain damage if undetected. Kidney tumours can be aggressive, so babies need regular check ups as they grow and quick treatment if a tumour develops.

Beckwith-Wiedemann syndrome is a genetic disorder, but the exact causes are not fully understood. Children born after fertility treatment, including IVF, seem to be at increased risk, though no-one knows why. As the nature of the illness can vary considerably, it can be hard to predict exactly how each baby will be affected and what treatment they will need.

What is the project trying to achieve?

Linking genetic changes with symptoms

Beckwith-Wiedemann syndrome is a genetic disorder. Research shows it results from changes in a special class of genes, called imprinted genes.

Imprinted genes play a key role in the growth and development of babies and children – both before and after birth. They are therefore thought to be of great importance to our state of health

Research shows Beckwith-Wiedemann syndrome can result from changes in the way imprinted genes are turned on or off. Some of these changes involve a chemical modification called methylation, whereby chemicals called methyl groups are added onto, or removed from, the gene. Others may involve mutations – or alterations – to the genetic code.

The researchers are hoping to identify more of the genetic changes that can cause Beckwith-Wiedemann syndrome, looking for both mutations in the genetic code and modifications in methylation patterns, using samples from around 400 patients. They hope to identify links between specific genetic changes and particular symptoms – so they can tell whether a particular change makes it more likely for a child to develop tumours, for example.

What are the researchers' credentials?

Project LeaderProfessor E Maher BSc MD FRCP FMedSci
Project team
  • Dr Derek Lim
LocationDepartment of Medical and Molecular Genetics, University of Birmingham School of Medicine, Institute of Biomedical Research, University of Birmingham
Duration3 years
Grant awarded23 July 2009
Start date1 June 2010
End date1 September 2013
Grant amount£131,476.00
Grant codeSP4452, GN1752

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The project team is one of the leading groups in the world for research on Beckwith-Wiedemann syndrome and on imprinting disorders. Most of the breakthroughs in understanding Beckwith-Wiedemann syndrome were made by, or in collaboration with, their group.

The researchers have a long-standing interest in Beckwith-Wiedemann syndrome, having studied the disorder for more than 15 years. Their excellent track record, their extensive experience and their expertise put them in the perfect position to succeed in this project. They also have access to DNA samples from more than 400 people with Beckwith-Wiedemann syndrome – to their knowledge this is the largest collection of such samples worldwide.

Who stands to benefit from this research and how?

Predicting how a child’s illness will progress

The researchers hope to identify more of the genetic changes that can cause Beckwith-Wiedemann syndrome. They also hope to identify links between individual genetic changes and particular symptoms. Babies who have these changes could benefit.

The researchers hope that their work will help us to predict how a child’s illness is likely to progress. It could help doctors to identify children who are most at risk of developing specific complications, such as kidney tumours. This could help ensure that high-risk children have regular and detailed screening, to detect tumours at an early stage, so they can benefit from treatment as soon as possible.

The researchers believe their work could also boost understanding of why children who were conceived using fertility treatment, such as IVF, seem to be at increased risk of developing Beckwith-Wiedemann syndrome. It may then be possible to adjust IVF procedures to minimise risks.

A deeper understanding of the way genetic factors influence growth and development in Beckwith-Wiedemann syndrome could also stimulate research into new treatments. It could even shed light on more common diseases that feature abnormal growth and development, including cancer.

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