Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Gene discovered for Weaver syndrome

16.12.2011
Scientists have found a gene that causes Weaver syndrome, a rare genetic disorder that typically causes large size at birth, tall stature, developmental delay during childhood, and intellectual disability. Published today in the American Journal of Human Genetics, the discovery means that testing the EZH2 gene for mutations could help families who are seeking a diagnosis for their child.

"For the families among whom we identified the gene, this discovery definitively brings the diagnostic odyssey to a close ¨C it's DNA confirmation that their children have Weaver syndrome," says Dr. William Gibson, the study's lead investigator. Dr. Gibson is a clinician scientist at the Child & Family Research Institute at BC Children's Hospital and an assistant professor in the Department of Medical Genetics at the University of British Columbia (UBC).

"Our discovery enables DNA-based diagnostic testing for this particular disease," says Dr. Gibson. "For physicians who suspect Weaver syndrome in one of their patients, we can now confirm it if we find mutations in EZH2. There may still be other Weaver syndrome genes, and we need to study more families to be sure."

Presently, doctors diagnose Weaver syndrome by assessing a child's face, growth, skeleton and other clinical features. People with Weaver syndrome have an oversized head, typical facial features, problems with muscle tone and joints, and differences in the way their skeleton matures. Mutations in the NSD1 gene, which normally causes a rare disease called Sotos syndrome, are also known to cause Weaver syndrome in some cases. There may be other genes involved in Weaver syndrome that are yet to be discovered.

"Now we have an answer for these families and we are also in a position to provide answers to other families affected by this rare and difficult disease," says Dr. Gibson. He is available to see new patients clinically for diagnosis of Weaver syndrome. As a result of this discovery, Dr. Gibson's team now offers sequencing of the EZH2 gene on a research basis in partnership with the Ottawa Hospital Research Institute. Dr. Gibson's team can be contacted by email at wtgibson@cfri.ubc.ca.

Traditionally, hunting for a disease-causing gene has relied on tracking a gene throughout a family's history. However, Weaver syndrome usually occurs only once in a family, as it is thought to be caused by a new genetic mutation in the sperm or egg that conceived the child. For this study, the investigators sought patients with Weaver syndrome from Canada and the United States. They approached Dr. David Weaver, who discovered the syndrome in 1974 and is professor emeritus of Medical and Molecular Genetics at Indiana University School of Medicine in Indianapolis. In two families that Dr. Weaver had examined, the Canadian team looked for brand new genetic mutations by comparing the DNA of affected children to DNA from their unaffected parents. Once the investigators identified EZH2 as a candidate gene, they sequenced it in DNA samples from a third Canadian family. They confirmed that an EZH2 mutation was in this third family's child but not in either of her healthy parents.

EZH2 is a cancer gene that is known to be mutated in leukemia, B-cell lymphomas and some other blood cancers. The gene helps control how DNA is packaged around specific proteins, which in turn helps to regulate which groups of genes are turned off and on.

"Our finding illuminates an emerging area of biology that links developmental syndromes and cancer," says Dr. Gibson. "It appears that some mutations in EZH2, if these occur early in life, produce developmental syndromes such as Weaver syndrome, whereas mutations in the same gene that occur later in life can produce cancer."

Dr. Steven Jones is the study's senior author who led the DNA sequencing and bioinformatics. He is head of bioinformatics and associate director of the Michael Smith Genome Sciences Centre at BC Cancer Agency, professor in the UBC Department of Medical Genetics, and professor, Molecular Biology & Biochemistry at Simon Fraser University (SFU).

This research evolved out of a new consortium called FORGE Canada (Finding of Rare Disease Genes in Canada). It is funded by Genome Canada, Canadian Institutes of Health Research, Ontario Genomics Institute, Genome Qu¨¦bec and Genome British Columbia. Dr. Gibson is also supported by the Child & Family Research Institute (CFRI), and Dr. Steven Jones is supported by the Michael Smith Foundation for Health Research.

CFRI conducts discovery, clinical and applied research to benefit the health of children and families. It is the largest institute of its kind in Western Canada. CFRI works in close partnership with UBC, BC Children's Hospital and Sunny Hill Health Centre for Children, BC Women's Hospital & Health Centre, agencies of Provincial Health Services Authority (PHSA) and BC Children's Hospital Foundation. CFRI has additional important relationships with the province's five regional health authorities and with BC academic institutions SFU, the University of Victoria, the University of Northern British Columbia, and the British Columbia Institute of Technology. For more information, visit www.cfri.ca.

BC Children's Hospital, an agency of PHSA, provides expert care for the province's most seriously ill or injured children, including newborns and adolescents. BC Children's is an academic health centre affiliated with UBC, SFU, and CFRI. For more information, please visit www.bcchildrens.ca.

BC Cancer Agency, an agency of PHSA, is committed to reducing the incidence of cancer, reducing the mortality from cancer, and improving the quality of life of those living with cancer. It provides a comprehensive cancer control program for the people of British Columbia by working with community partners to deliver a range of oncology services, including prevention, early detection, diagnosis and treatment, research, education, supportive care, rehabilitation and palliative care. For more information, visit www.bccancer.ca.

UBC is one of Canada's largest and most prestigious public research and teaching institutions, and one of only two Canadian institutions to be consistently ranked among the world's 40 best universities. Surrounded by the beauty of the Canadian West, it is a place that inspires bold, new ways of thinking that have helped make it a national leader in areas as diverse as community service learning, sustainability and research commercialization. UBC attracts $550 million per year in research funding from government, non©profit organizations and industry through 7,000 grants. For more information, visit www.ubc.ca

Jennifer Kohm | EurekAlert!
Further information:
http://www.cfri.ca

More articles from Life Sciences:

nachricht Could this protein protect people against coronary artery disease?
17.11.2017 | University of North Carolina Health Care

nachricht Microbial resident enables beetles to feed on a leafy diet
17.11.2017 | Max-Planck-Institut für chemische Ökologie

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: A “cosmic snake” reveals the structure of remote galaxies

The formation of stars in distant galaxies is still largely unexplored. For the first time, astron-omers at the University of Geneva have now been able to closely observe a star system six billion light-years away. In doing so, they are confirming earlier simulations made by the University of Zurich. One special effect is made possible by the multiple reflections of images that run through the cosmos like a snake.

Today, astronomers have a pretty accurate idea of how stars were formed in the recent cosmic past. But do these laws also apply to older galaxies? For around a...

Im Focus: Visual intelligence is not the same as IQ

Just because someone is smart and well-motivated doesn't mean he or she can learn the visual skills needed to excel at tasks like matching fingerprints, interpreting medical X-rays, keeping track of aircraft on radar displays or forensic face matching.

That is the implication of a new study which shows for the first time that there is a broad range of differences in people's visual ability and that these...

Im Focus: Novel Nano-CT device creates high-resolution 3D-X-rays of tiny velvet worm legs

Computer Tomography (CT) is a standard procedure in hospitals, but so far, the technology has not been suitable for imaging extremely small objects. In PNAS, a team from the Technical University of Munich (TUM) describes a Nano-CT device that creates three-dimensional x-ray images at resolutions up to 100 nanometers. The first test application: Together with colleagues from the University of Kassel and Helmholtz-Zentrum Geesthacht the researchers analyzed the locomotory system of a velvet worm.

During a CT analysis, the object under investigation is x-rayed and a detector measures the respective amount of radiation absorbed from various angles....

Im Focus: Researchers Develop Data Bus for Quantum Computer

The quantum world is fragile; error correction codes are needed to protect the information stored in a quantum object from the deteriorating effects of noise. Quantum physicists in Innsbruck have developed a protocol to pass quantum information between differently encoded building blocks of a future quantum computer, such as processors and memories. Scientists may use this protocol in the future to build a data bus for quantum computers. The researchers have published their work in the journal Nature Communications.

Future quantum computers will be able to solve problems where conventional computers fail today. We are still far away from any large-scale implementation,...

Im Focus: Wrinkles give heat a jolt in pillared graphene

Rice University researchers test 3-D carbon nanostructures' thermal transport abilities

Pillared graphene would transfer heat better if the theoretical material had a few asymmetric junctions that caused wrinkles, according to Rice University...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

Ecology Across Borders: International conference brings together 1,500 ecologists

15.11.2017 | Event News

Road into laboratory: Users discuss biaxial fatigue-testing for car and truck wheel

15.11.2017 | Event News

#Berlin5GWeek: The right network for Industry 4.0

30.10.2017 | Event News

 
Latest News

NASA detects solar flare pulses at Sun and Earth

17.11.2017 | Physics and Astronomy

NIST scientists discover how to switch liver cancer cell growth from 2-D to 3-D structures

17.11.2017 | Health and Medicine

The importance of biodiversity in forests could increase due to climate change

17.11.2017 | Studies and Analyses

VideoLinks
B2B-VideoLinks
More VideoLinks >>>