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 such as craniofacial microsomia, are also caused by genes in this pathway."

ACS, a syndrome first described by scientists in 1978, is believed to affect less than one in 50,000 births, though the precise frequency is not known. It is not uncommon for the condition to be misdiagnosed or for diagnosis to be delayed. According to Dr. Cunningham it was the precision of case choice that allowed this discovery.

Of the five cases studied, two of the parents did not have this condition but were carriers for the mutation. "Now that we know the genetic pathway for ACS, we will be able to better identify and counsel people who have normal facial appearances but carry these genes, about the likelihood of passing on this mutation to their children,'' Dr. Cunningham said.


'/>"/>

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

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:2/2/2016)... Feb. 2, 2016 This BCC Research ... market by reviewing the recent advances in high ... drive the field forward. Includes forecast through 2019. ... the challenges and opportunities that exist in the ... solution developers, as well as IT and bioinformatics ...
(Date:2/1/2016)... , February 1, 2016 ... advancements to drive global touchfree intuitive gesture control market ... --> Rising sales of consumer electronics coupled with ... control market size through 2020 ... electronics coupled with new technological advancements to drive global ...
(Date:1/25/2016)...   Unisys Corporation (NYSE: UIS ) today announced ... International Airport, New York City , to help ... to enter the United States using passports ... pilot testing of the system at Dulles last year. The ... during January 2016. --> pilot testing of the ...
Breaking Biology News(10 mins):
(Date:2/10/2016)... -- ASAE is introducing a hybrid membership model which ... option of joining or renewing through an organizational purchasing ... size, every employee in any size association or AMC ... available member benefits.   John H. Graham, ... will allow organizations of any size and their employees ...
(Date:2/10/2016)... DUBLIN , Feb. 10, 2016  Allergan plc ... today announced that Brent Saunders , Allergan,s CEO ... in a fireside chat session at the RBC Capital ... 12:30 p.m. ET at The New York Palace Hotel ... presentation will be webcast live and can be accessed ...
(Date:2/10/2016)... Springfield, MO (PRWEB) , ... February 10, 2016 ... ... company, will attend the International Society of Pharmaceutical Engineering (ISPE) Rocky Mountain Chapter ... of ISPE is expecting to fill more than 100 tables for its annual ...
(Date:2/10/2016)... ... February 10, 2016 , ... ... registry built on the secure online PatientCrossroads platform, has exceeded both its one-year ... have joined the PROMPT study, which seeks to advance understanding of the hereditary ...
Breaking Biology Technology: