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:12/3/2014)... As part of our commitment to offering ... to announce the release of a new reader that ... workforce data that they need. The Atlas ... existing readers. Many such devices have serious shortcomings when ... Older models force users to navigate numerous complicated steps ...
(Date:11/21/2014)... VIEW, Calif. , Nov. 20, 2014 ... higher driver efficiency are piloting the North American and ... number of accidents growing, gesture recognition systems that are ... make a mark in the industry. ... the Automotive Gesture Recognition Market in Europe ...
(Date:11/18/2014)... , Nov. 18, 2014  The Secure ... Industry Association today jointly announce the formation of ... release of its Identity and Biometric Entry ... The Framework received official support from BORDERPOL, the ... to improve and provide expertise regarding border security, ...
Breaking Biology News(10 mins):Inception Technologies to Release New Biometric Reader 2Gesture Recognition Intensifies with the Rise of In-car Smartphone Integration, Says Frost & Sullivan 2Gesture Recognition Intensifies with the Rise of In-car Smartphone Integration, Says Frost & Sullivan 3Gesture Recognition Intensifies with the Rise of In-car Smartphone Integration, Says Frost & Sullivan 4Identity Management, Document Authentication and Biometric Companies Form "The Airport Entry and Exit Working Group", Releasing the Framework to Help Guide the Department of Homeland Security and Congress Towards Solutions 2Identity Management, Document Authentication and Biometric Companies Form "The Airport Entry and Exit Working Group", Releasing the Framework to Help Guide the Department of Homeland Security and Congress Towards Solutions 3
... may soon be a boon to biofuels producers. The ... a surprisingly minimal repertoire of genes that it employs ... further improvements in enzymes customized for biofuels production. ... Biotechnology by a team of government, academic, and industry ...
... the public and the scientific community for access to ... copyright policy to allow authors to retain the rights ... which became effective May 1, applies to all three ... The Journal of Experimental Medicine and The Journal of ...
... (May 2, 2008)As the westernization of India accelerates, tobacco advertising ... urban Indian children as young as 11, according to a ... Public Health. , The study, Associations Between Tobacco Marketing ... the May/June issue of the American Journal of Health Behavior. ...
Cached Biology News:Lean and mean biomass-degrading fungus reveals capabilities for improved biofuel production 2Lean and mean biomass-degrading fungus reveals capabilities for improved biofuel production 3Rockefeller University Press allows authors to retain copyright to their published work 2UT researchers find link between advertising and increased tobacco use among India's youth 2UT researchers find link between advertising and increased tobacco use among India's youth 3
(Date:12/17/2014)... 17, 2014 CASI Pharmaceuticals, Inc. (Nasdaq: ... acquisition, development and commercialization of innovative therapeutics addressing cancer ... with a primary commercial focus on China ... a Type C meeting with the U.S. Food and ... held in February 2015.  During this meeting the Company ...
(Date:12/15/2014)... 15, 2014 METTLER TOLEDO is ... tool, ParticleView V19 with PVM technology , ... particle vision and measurement tool continuously captures high-resolution ... ParticleView V19 then automatically prepares a report pairing ... size and concentration changes. This compelling blend of ...
(Date:12/15/2014)...  GlassesOff Inc. (OTCBB: GLSO) announced today the appointment ... director of the Company,s Board of Directors. ... its CEO until its acquisition by Stanley Black ... Recognized as the inventor of the first Wi-Fi-based Active ... -based RFID solutions focused on improving operational efficiency, safety ...
(Date:12/13/2014)... (PRWEB) December 13, 2014 CanDiag, Inc., ... spin-out company has changed its name to OncoTab, Inc. ... representation of where we are today,” said CEO and ... our platform’s applications beyond breast cancer diagnostics to include ... reflection of that evolution.” , Founded in 2011 by ...
Breaking Biology Technology:CASI Pharmaceuticals Granted Type C Meeting With U.S. FDA For ENMD-2076 In Fibrolamellar Carcinoma 2CASI Pharmaceuticals Granted Type C Meeting With U.S. FDA For ENMD-2076 In Fibrolamellar Carcinoma 3CASI Pharmaceuticals Granted Type C Meeting With U.S. FDA For ENMD-2076 In Fibrolamellar Carcinoma 4CASI Pharmaceuticals Granted Type C Meeting With U.S. FDA For ENMD-2076 In Fibrolamellar Carcinoma 5New Real-Time In Situ Probe-Based Video Microscope from METTLER TOLEDO 2AeroScout Founder Joins GlassesOff's Board of Directors 2AeroScout Founder Joins GlassesOff's Board of Directors 3CanDiag Inc. Expands Product Scope Under a New Name: OncoTab, Inc. 2
... celebrity chef Sam Talbot and, other luminaries support ... 1 The stars will be out at the ... to be held at Cipriani 23rd Street on Wednesday, ... confirmed on the guest list are Sam,Talbot of TV,s ...
... May 1 MiMedx Group, Inc. (OTC,Bulletin Board: ... of UPS International, has been appointed to its ... on the appointment, Thomas D,Alonzo, Chief Executive,Officer, stated ... stature,independence and knowledge to our Board. Ron,s financial ...
... Sidec announces the first,Protein Tomography(TM) Award ... Award,is set up to enable research groups ... collaborated with Sidec on a Protein Tomography(TM) ... successfully used in,cancer drug research., (Logo: ...
Cached Biology Technology:Celebrities to Attend and Present at D.R.E.a.M.S in the City 2MiMedx Group, Inc. Adds Ronald G. Wallace to Board of Directors 2Sidec Announces the First Protein Tomography(TM) Award at Sidec's Executive Forum at PEGS 2