Navigation Links
Researchers pinpoint genetic pathway of rare facial malformation in children
Date:5/3/2012

Researchers at Seattle Children's Research Institute and their collaborators have discovered a pair of defective genes that cause a rare congenital malformation syndrome that can make it impossible for the child to breathe or eat properly without reparative surgery. In a study led by Michael L. Cunningham, MD, PhD, medical director of the Seattle Children's Hospital's Craniofacial Center, a research team pinpointed two genes known as PLCB4 and GNAI3 in a genetic pathway that affects children with auriculocondylar syndrome (ACS). ACS is a rare disorder in which a child's bottom jaw develops as an upper jaw and, in some cases, incorrectly fuses to the base of the skull.

As part of the study, the DNA of five children with similar facial features characteristic of ACS was sequenced. Cunningham and his colleague Mark J. Rieder, PhD (University of Washington) used exome sequencing, selectively sequencing those regions of the patients' DNA believed to constitute the majority of disease-causing mutations. The study, to be published in the May edition of American Journal of Human Genetics, is one of the first genomic studies to identify causative mutations in two genes for the same disorder in the same pathway in a single analysis, Dr. Cunningham said.

While children with ACS have normal cognitive development, severe cases may require an immediate tracheostomy, feeding tubes, and ultimately extensive facial reconstructive surgery to allow them to eat and breathe properly.

"Although ACS is rare, our findings suggest that these genes may also play a role in more common disorders of the jaw and ears," said Dr. Cunningham, who is also chief of the division of craniofacial medicine and professor of pediatrics in the Department of Pediatrics at the University of Washington School of Medicine. "It's possible that more common jaw problems, like the lower jaw abnormality known as Robin sequence and other skull and facial abnormalities suc
'/>"/>

Contact: Mary Guiden
mary.guiden@seattlechildrens.org
206-987-7334
Seattle Children's
Source:Eurekalert  

Page: 1 2

Related biology news :

1. Researchers find reducing fishmeal hinders growth of farmed fish
2. Researchers unveil new assessment for diagnosing malnutrition
3. Researchers show prebiotic can reduce severity of colitis
4. Game on! UCLA researchers use online crowd-sourcing to diagnose malaria
5. Americas clean energy policies need a reality check, say Stanford researchers
6. Researchers find potential dark side to diets high in beta-carotene
7. Researchers at Hebrew University identify genetic systems disrupted in autistic brain
8. Light weights are just as good for building muscle, getting stronger, researchers find
9. Researchers develop rapid test strips for bacterial contamination in swimming water
10. Researchers question pulling plug on pacifiers
11. UCSD researchers: Where international climate policy has failed, grassroots efforts can succeed
Post Your Comments:
*Name:
*Comment:
*Email:
Related Image:
Researchers pinpoint genetic pathway of rare facial malformation in children
(Date:3/17/2015)... MedNet Solutions , a global ... management systems, is pleased to announce that company ... in Clinical Trials Southeast conference – March 24-25 ... forum for MedNet to showcase iMedNet , ... eClinical technology platform. We strongly encourage ...
(Date:3/12/2015)... March 12, 2015 IriTech, a leading iris ... of the Texas Instruments Design Network, announced today that ... demonstrated its IriShield USB MK2120U device during a launching ... pension distribution. The iris scanner is ... marketed in India through its ...
(Date:3/11/2015)... 2015 Research and Markets ( http://www.researchandmarkets.com/research/3p32qm/access_control ... Control Market by Product, Application & By Geography - ... their offering. , This report predicts that ... billion by 2020, with an estimated CAGR of 10.6%. ... products types such as contact cards & readers, contactless ...
Breaking Biology News(10 mins):Connect With MedNet Solutions At Outsourcing In Clinical Trials Southeast 2Indian States See IriTech's Scanner Bolstering Efficiency of Authentication for Aadhaar 2Indian States See IriTech's Scanner Bolstering Efficiency of Authentication for Aadhaar 3Global Access Control (Cards & Readers, Biometrics, Controllers, Management Software) Market 2015-2020 - Analysis of the $10 Billion Market 2
... , , , , , ... AUDIO: When men outnumber women, the women tend to marry younger and men engage in riskier, ... , , , , , , ... , , , , , , , ANN ARBOR, Mich..---When men outnumber women, ...
... molecule known to be involved in progressive heart failure ... damage after a heart attack, according to researchers at ... conclusion, the research team used gene therapy to inhibit ... kinase 2 (GRK2), and found heart muscles cells in ...
... to grab a glass of milk when you,re on diet, suggests ... Nutrition . In a 2-year weight loss study, milk drinkers had ... that adults who drank the most milk (nearly 2 glasses per ... lost more weight after 2 years than those who had little ...
Cached Biology News:Women: Hope to marry young? Head to Alaska, steer clear of Alabama 2Women: Hope to marry young? Head to Alaska, steer clear of Alabama 3Women: Hope to marry young? Head to Alaska, steer clear of Alabama 4Molecule involved in heart failure now implicated in heart attack damage 2New study finds milk drinkers may have a healthy weight advantage 2
(Date:3/26/2015)... 26, 2015  Roka Bioscience, Inc. (NASDAQ: ... providing advanced testing solutions for the detection of ... the three months and full year ended December ... Results:Revenue for the quarter ended December 31, 2014 ... fourth quarter of 2013 and $1.5 million for ...
(Date:3/26/2015)... and CINCINNATI , ... plc (LSE: SHP, NASDAQ: SHPG ) and ... three-year, broad research collaboration for rare diseases. The goal ... novel therapies to treat rare diseases with high ... capabilities with Cincinnati Children,s research expertise. As a ...
(Date:3/26/2015)... Ale Gicqueau, Founder and President of Clinovo, ... at Align Technology, on “ Conducting Postmarket Registries - ... Global Conference and Exhibition on April 25th through April ... the poster presentation, Ale Gicqueau and Victor Chen will ... Registry, the requirements and resources to conduct the registry, ...
(Date:3/25/2015)... , March 25, 2015 Optimal Research, LLC ... Industry Excellence (ViE) Award "Best Clinical Site or Trial ... that Optimal has been selected as a nominee in ... receiving a "Highly Recommended" distinction in 2014. The ViE ... the efforts, accomplishments, and positive contributions of companies and ...
Breaking Biology Technology:Roka Bioscience Reports Fourth Quarter and Full Year 2014 Financial Results 2Roka Bioscience Reports Fourth Quarter and Full Year 2014 Financial Results 3Roka Bioscience Reports Fourth Quarter and Full Year 2014 Financial Results 4Roka Bioscience Reports Fourth Quarter and Full Year 2014 Financial Results 5Roka Bioscience Reports Fourth Quarter and Full Year 2014 Financial Results 6Roka Bioscience Reports Fourth Quarter and Full Year 2014 Financial Results 7Shire and Cincinnati Children's Establish Rare Disease Research Collaboration 2Shire and Cincinnati Children's Establish Rare Disease Research Collaboration 3Shire and Cincinnati Children's Establish Rare Disease Research Collaboration 4Shire and Cincinnati Children's Establish Rare Disease Research Collaboration 5Clinovo Presents at ACRP 2015 in Salt Lake City, Utah on April 25th-28th 2Clinovo Presents at ACRP 2015 in Salt Lake City, Utah on April 25th-28th 3Optimal Research Nominated 2015 Vaccine Industry Excellence (ViE) Award 2
... new market research report is available in its catalogue: , ... Global Nucleic Acid Testing Industry , , ... , , ... US$ Million. Annual estimates and forecasts are provided for the period 2006 through 2015. The ...
... , ... with Key Partners Recognized , ... Wilmington, Del. (Vocus) June 22, 2010 -- All three DuPont biofuels collaborations ... The DuPont Danisco Cellulosic Ethanol ( DDCE ) joint venture and the DuPont ...
... ... , ... 2010 -- iCardiac Technologies, Inc. , a provider of next generation cardiac core ... selected iCardiac as a preferred vendor. iCardiac will provide a full range of ...
Cached Biology Technology:Reportlinker Adds Global Nucleic Acid Testing Industry 2Reportlinker Adds Global Nucleic Acid Testing Industry 3Reportlinker Adds Global Nucleic Acid Testing Industry 4Reportlinker Adds Global Nucleic Acid Testing Industry 5Reportlinker Adds Global Nucleic Acid Testing Industry 6Reportlinker Adds Global Nucleic Acid Testing Industry 7Reportlinker Adds Global Nucleic Acid Testing Industry 8Reportlinker Adds Global Nucleic Acid Testing Industry 9Reportlinker Adds Global Nucleic Acid Testing Industry 10DuPont Named to Biofuels Digest 2010 “Transformative Technologies 303 2DuPont Named to Biofuels Digest 2010 “Transformative Technologies 303 3DuPont Named to Biofuels Digest 2010 “Transformative Technologies 303 4Three Top 20 Pharmaceutical Companies Select iCardiac as Preferred Vendor 2
Goat polyclonal to DDDDK tag (FITC) ( Abpromise for all tested applications)....
...
DNA fragmentation factor & Inhibitor of CAD...
Component in MasterPure™ Purification Kits...
Biology Products: