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:10/16/2014)... on how the bowel lining develops and, in the ... starts. , The researchers produced evidence that stem cells ... are a feature of the bowel lining, and believe ... a controversial finding as scientists are still divided on ... Dr Chin Wee Tan and Professor Tony Burgess from ...
(Date:10/16/2014)... – Post-menopausal women experienced improvements in vaginal atrophy, ... genital bleeding, after 12 weeks of daily 10 ... germ-based nutritional supplement previously shown to help relieve ... pilot study reported in a poster at the ... , "These data documented improved vaginal epithelium, ...
(Date:10/15/2014)... assess the pandemic risk from strains of influenza virus ... allow ourselves to become complacent that the most substantial ... scientists. , Influenza pandemics arise when a new virus ... widespread immunity – spreads in the human population. There ... years, the worst of which – the 1918 Spanish ...
Breaking Biology News(10 mins):Cryptic clues drive new theory of bowel cancer development 2S-equol supplements associated with improved measures of reproductive health in postmenopausal women 2Scientists 'must not become complacent' when assessing pandemic threat from flu viruses 2
... microscopy method for measuring the shapes and sizes of ... are a better match for the proteins they target. ... measures distances at the molecular level in two and ... feature of the new method, written up recently in ...
... biodiversity itself, says evolutionary ecologist Andrew Forbes of the ... that when the apple maggot shifted hosts from the ... on the ecosystem. Forbes and his colleagues found ... attacks the apple maggot ( Rhagoletis pomonella ) has ...
... Texas Health Science Center at Houston successfully predicted the ... a pre-clinical study. Their research could help determine which ... Researchers from the Georgia Institute of Technology and Emory ... the February issue of Radiology . The ...
Cached Biology News:Measuring molecules to improve drug design 2Host shift triggers cascading effect on ecosystem, research finds 2Scientists can predict nano drug outcome 2
(Date:10/20/2014)... Oct. 20, 2014 PureTech , a ... big healthcare problems, announced today the closing of ... participation from Invesco Perpetual, a $120 Billion group ... drive PureTech,s existing pipeline forward and to advance ... the scientific creativity to really go for the ...
(Date:10/19/2014)... (PRWEB) October 19, 2014 The Latin ... the market in Latin America with analysis and forecast ... in 2013, and is expected to reach $2,366.8 million ... to 2018. , Browse through the TOC of the ... idea of the in-depth analysis provided. It also provides ...
(Date:10/19/2014)... The Asian Automatic patient billing report ... and forecast of revenue. The Automatic patient billing market ... million by 2018, at a developing CAGR of 7.2% ... of the Asian Automatic patient billing market, to get ... provides a glimpse of the segmentation of this market ...
(Date:10/19/2014)... (PRWEB) October 19, 2014 The ... Defense, & Homeland Security), Technology, Payload, Type & ... and segments the global unmanned ground vehicle market ... and forecasting of market sizes. The report also ... and opportunities impacting it along with the adoption ...
Breaking Biology Technology:PureTech Announces Expansion with Oversubscribed $55M Funding Round 2PureTech Announces Expansion with Oversubscribed $55M Funding Round 3PureTech Announces Expansion with Oversubscribed $55M Funding Round 4PureTech Announces Expansion with Oversubscribed $55M Funding Round 5PureTech Announces Expansion with Oversubscribed $55M Funding Round 6The Latin American hardware encryption display market is expected to reach $2,366.8 million by 2018 - New Report by MicroMarket Monitor 2The Latin American hardware encryption display market is expected to reach $2,366.8 million by 2018 - New Report by MicroMarket Monitor 3The Asian Automatic patient billing market is estimated to grow to around $463.9 million by 2018 - New Report by MicroMarket Monitor 2The Asian Automatic patient billing market is estimated to grow to around $463.9 million by 2018 - New Report by MicroMarket Monitor 3Unmanned Ground Vehicle (UGV) Market Estimated to Reach $8.26 Billion by 2020 - New Research Report by MarketsandMarkets 2Unmanned Ground Vehicle (UGV) Market Estimated to Reach $8.26 Billion by 2020 - New Research Report by MarketsandMarkets 3Unmanned Ground Vehicle (UGV) Market Estimated to Reach $8.26 Billion by 2020 - New Research Report by MarketsandMarkets 4Unmanned Ground Vehicle (UGV) Market Estimated to Reach $8.26 Billion by 2020 - New Research Report by MarketsandMarkets 5
... Inc., (http://www.lucid-tech.com ) today announced the launch ... The network is designed to transfer and,manage ... VivaScope(R) Confocal Imagers with pathologists or other,medical ... provide non-invasive,in- vivo cellular resolution images of ...
... RATON, Fla., Feb. 12 More than 400 ... today,for the Generic Pharmaceutical Association (GPhA) Annual Meeting ... in 2008. With the theme of,"Generics: The Right ... opportunities and challenges in this important,legislative and election ...
... Healthcare,Acquisition Corp. (Amex: MBH ), a publicly ... and Critical Home Solutions,Holdings, Inc., a privately-owned, leading ... services, are scheduled to present,on Wednesday, February 13, ... New York, NY. On February 7, 2008, MBF ...
Cached Biology Technology:Lucid Launches VivaNet(R) Telemedicine Server for Dermatology Applications 2Lucid Launches VivaNet(R) Telemedicine Server for Dermatology Applications 3GPhA Annual Meeting Focuses on Industry Opportunities and Challenges for 2008 2MBF Healthcare Acquisition Corp. and Critical Homecare Solutions Holdings, Inc. to Present at the 2008 UBS Healthcare Services Conference 2MBF Healthcare Acquisition Corp. and Critical Homecare Solutions Holdings, Inc. to Present at the 2008 UBS Healthcare Services Conference 3