Navigation Links
Gene discovered for Weaver syndrome
Date:12/15/2011

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 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 d
'/>"/>

Contact: Jennifer Kohm
jkohm@cfri.ca
604-875-2401
Child & Family Research Institute
Source:Eurekalert

Page: 1 2 3

Related medicine news :

1. Dual-acting class of antimalarial compounds discovered by Novartis with potential to prevent and treat malaria
2. A better way to count molecules discovered
3. Stop signal discovered for skin cancer
4. Protein discovered at LSUHSC may suppress breast cancer growth
5. Key function of mutation in hereditary breast and ovarian cancer gene discovered
6. Six new genetic variants linked to type 2 diabetes discovered in South Asians
7. New defense discovered against common hospital-acquired infection
8. Atomic structure discovered for a sodium channel that generates electrical signals in living cells
9. Cause of hereditary blindness discovered
10. Potential cause of severe sleep disorder discovered, implications for Parkinsons disease
11. Connection discovered between the nervous system and the vascular system
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:7/28/2014)... NY (PRWEB) July 28, 2014 Glutamine ... body and it’s considered to be conditionally essential during ... and is an advanced recovery & Immune System Support. ... the glutamine your body produces, supplementing with additional glutamine ... of waste products in the body, digestion and immune ...
(Date:7/28/2014)... HealthDay Reporter MONDAY, ... who are at risk of contracting meningitis because of ... according to updated recommendations from the largest pediatrician group ... for the potentially deadly infection should continue for adolescents ... In its first statement on meningococcal vaccines since ...
(Date:7/28/2014)... runners are far more likely to die of heat ... new study. The researchers pointed out that ... actually 10 times more likely to develop severe and ... of a young and apparently healthy person due to ... gets a lot more media attention. "This research ...
(Date:7/28/2014)... 28, 2014 SIMpalm helped its ... App is available on iTunes for download . Experience ... Audio Chef allows you to listen and cook along with ... way: simply get out the ingredients and equipment, press play, ... or prepare ingredients ahead of time, just relax and cook ...
(Date:7/28/2014)... NY (PRWEB) July 28, 2014 The ... organization that has donated more than 200,000 books to ... 2001, announces the launch of Brooke’s Cooks, a new ... while encouraging healthy living among at-risk children and their ... will include a series of nutrition information workshops, cooking ...
Breaking Medicine News(10 mins):Health News:Betancourt Nutrition Introduces Glutamine Plus with Sustamine® L-Alanyl-L-Glutamine 2Health News:Betancourt Nutrition Introduces Glutamine Plus with Sustamine® L-Alanyl-L-Glutamine 3Health News:Doctors Urge Meningitis Shots for Vulnerable Infants, Children 2Health News:Doctors Urge Meningitis Shots for Vulnerable Infants, Children 3Health News:Heat Stroke a Greater Threat to Endurance Runners Than Heart Problems: Study 2Health News:Audio Chef Co. Releases Audio Cooking App for iPhone/iPad/iPod touch 2Health News:Audio Chef Co. Releases Audio Cooking App for iPhone/iPad/iPod touch 3Health News:Audio Chef Co. Releases Audio Cooking App for iPhone/iPad/iPod touch 4Health News:Brooke Jackman Foundation Launches Brooke's Cooks, New Initiative to Promote Healthy Living Among At-Risk Youth and Their Families 2Health News:Brooke Jackman Foundation Launches Brooke's Cooks, New Initiative to Promote Healthy Living Among At-Risk Youth and Their Families 3Health News:Brooke Jackman Foundation Launches Brooke's Cooks, New Initiative to Promote Healthy Living Among At-Risk Youth and Their Families 4
... the Quality of Life of Injured Veterans , ... study by Kessler Foundation Research Center published in ... Brain Injury Association, uncovered the possible cause of cognitive ... Cognitive fatigue has been shown to be one of ...
... Merz Scales(TM) are the most comprehensive rating system to be ... 34 years , , LAS VEGAS, June 11 ... measure the skin,s aging process, were presented at THE Aesthetic ... multidisciplinary experts to "establish a universal language of aging," The ...
... Final Year of Developing Criteria for Behavioral Health EHR ... The Certification Commission for Healthcare Information Technology (CCHIT(R)) ... M.D., to its Behavioral Health Work Group for 2009-2010. ... composed of a diverse group of healthcare stakeholders and ...
... process to store most relevant information, study shows , THURSDAY, ... memory, but the sleeping brain seems to store only the ... a group of 44 college students aged 18 to 22, ... follows a period of learning, sleep can preserve the most ...
... IPC The Hospitalist Company, Inc. (Nasdaq: ... company, announced today that it has acquired the hospitalist ... Based in Morristown, New Jersey, the acquisition establishes ... Company,s national presence to 19 states. IPC expects to ...
... and Configuration Scanning Service Helps Healthcare Organizations Improve ... Effective Solution , , SAN FRANCISCO, June ... compliance auditing solutions, and Health Information Trust Alliance ... as the provider of vulnerability and configuration assessments ...
Cached Medicine News:Health News:Kessler Foundation Research Center Study Provides Insight into One of the Most Challenging Symptoms Following a Traumatic Brain Injury 2Health News:Kessler Foundation Research Center Study Provides Insight into One of the Most Challenging Symptoms Following a Traumatic Brain Injury 3Health News:First-Ever Standardized Scales to Measure the Skin's Aging Process Are Presented at THE Aesthetic Show 2Health News:Netsmart's Haines Reappointed to CCHIT Behavioral Health Work Group 2Health News:IPC The Hospitalist Company Expands Into New Jersey 2Health News:nCircle and HITRUST Partner to Deliver Innovative SaaS Offering to Secure Healthcare Information 2Health News:nCircle and HITRUST Partner to Deliver Innovative SaaS Offering to Secure Healthcare Information 3Health News:nCircle and HITRUST Partner to Deliver Innovative SaaS Offering to Secure Healthcare Information 4
(Date:7/28/2014)... 2014  ProteinSimple announced today that it has launched ... assay allows users to detect all proteins separated in ... users can analyze proteins without the need for an ... protein analysis as we know it today. First, the Simple ... no messy gels, no transfer tanks, no blots, no ...
(Date:7/28/2014)... Germany and LONDON ... , Collaboration aims to create and commercialize ... guide the use of IRESSA  for non-small cell lung ... on QIAGEN,s FDA-approved  therascreen   EGFR test and is planned ... automated instruments  Project enabled by AstraZeneca master ...
(Date:7/28/2014)... 28, 2014 OmPrompt today ... to help it meet the global demand for ... and logistics. Albion joins Shackleton Ventures. ... Over the past 18 months OmPrompt has underpinned ... management team and its operations. The new funding ...
Breaking Medicine Technology:ProteinSimple Says "Never Run a Gel Again!" 2QIAGEN and AstraZeneca Collaborate to Develop Liquid Biopsy-Based Companion Diagnostic to Advance EGFR Mutation Profiling in Lung Cancer Patients 2QIAGEN and AstraZeneca Collaborate to Develop Liquid Biopsy-Based Companion Diagnostic to Advance EGFR Mutation Profiling in Lung Cancer Patients 3QIAGEN and AstraZeneca Collaborate to Develop Liquid Biopsy-Based Companion Diagnostic to Advance EGFR Mutation Profiling in Lung Cancer Patients 4QIAGEN and AstraZeneca Collaborate to Develop Liquid Biopsy-Based Companion Diagnostic to Advance EGFR Mutation Profiling in Lung Cancer Patients 5QIAGEN and AstraZeneca Collaborate to Develop Liquid Biopsy-Based Companion Diagnostic to Advance EGFR Mutation Profiling in Lung Cancer Patients 6OmPrompt Funded for Customer Automation Management Market Expansion 2
... GREEN BAY, Wis., Jan. 10, 2012  With increasing demands ... longer hours or shuttling the children to and from ... of a challenge. To make life simpler for shoppers ... its mobile pharmacy app, allowing users to quickly and ...
... Oramed Pharmaceuticals Inc. (OTCBB:ORMP) ( http://www.oramed.com ... today that it has filed a provisional patent application ... a combination therapy of its lead compound, ORMD-0801 in ... no such approved combination product available on the market ...
Cached Medicine Technology:Shopko Launches Mobile Pharmacy App to Maximize Customer Convenience 2Oramed Pharmaceuticals Files US Patent Application for Combination Oral Treatment of Diabetes 2Oramed Pharmaceuticals Files US Patent Application for Combination Oral Treatment of Diabetes 3
IRMA kit for detection of the cardiac marker Myoglobin...
... The assay is an immunometric ... measurement of Prolactin in human ... the sample is bound by ... different epitopes. One antibody is ...
... Immunosorbent Assay (ELISA) serves the quantitative,determination of ... serum and,urine. In a 1 hour incubation ... bound to an,available excess of polyclonal rabbit ... surface of the microtitre plates. After a ...
... method for the semi-quantitative determination of ... human serum. The results of the ... an aid in the diagnosis of ... with elevated anti-neutrophil cytoplasmic antibodies (P-ANCA) ...
Medicine Products: