Researchers discover gene for branchio-oculo-facial syndrome

Apr 23, 2008

Boston, MA--In a collaborative effort, researchers from Boston University School of Medicine (BUSM) have discovered that deletions or mutations within the TFAP2A gene (Activating Enhancer-Binding Protein) result in the distinctive clefting disorder Branchio-Oculo-Facial syndrome (BOFS).

This rare disorder is characterized by specific skin anomalies involving the neck and behind the ear, eye abnormalities, a typical facial appearance, and frequently cleft lip and palate. The study currently appears on-line in the April 17th issue of the American Journal of Human Genetics.

Using the latest in molecular microarray technologies, the researchers examined one affected mother and son and two sporadic BOFS cases and found a small deletion on chromosome 6 in the mother and son. Sequencing of genes in this candidate region revealed missense mutations clustered in the basic region of the DNA-binding domain of the TFAP2A gene in 4 sporadic BOFS patients.

According to lead author Jeff Milunsky, MD, director of clinical genetics, associate director of the Center for Human Genetics, and an associate professor of pediatrics, genetics and genomics at BUSM, this discovery will lead to more precise diagnostic testing, enable prenatal diagnosis, suggest directions for new research, and facilitate genetic counseling in these families.

“This gene is a well-known transcription factor involved in multiple developmental pathways as well as tumorigenesis. An intriguing finding is that one of the affected patients with a mutation also has brain cancer, highlighting again the connection between malformations and cancer,” he added.
Milunsky believes this discovery may have significant wide-ranging implications as this gene may also play a role in the more common isolated occurrence of cleft lip and palate.

Source: Boston University

Explore further: Could ibuprofen be an anti-aging medicine? Popular over-the counter drug extends lifespan in yeast, worms and flies

add to favorites email to friend print save as pdf

Related Stories

People finding their 'waze' to once-hidden streets

49 minutes ago

When the people whose houses hug the narrow warren of streets paralleling the busiest urban freeway in America began to see bumper-to-bumper traffic crawling by their homes a year or so ago, they were baffled.

Identity theft victims face months of hassle

59 minutes ago

As soon as Mark Kim found out his personal information was compromised in a data breach at Target last year, the 36-year-old tech worker signed up for the retailer's free credit monitoring offer so he would ...

Observers slam 'lackluster' Lima climate deal

1 hour ago

A carbon-curbing deal struck in Lima on Sunday was a watered-down compromise where national intransigence threatened the goal of a pact to save Earth's climate system, green groups said.

Your info has been hacked. Now what do you do?

1 hour ago

Criminals stole personal information from tens of millions of Americans in data breaches this past year. Of those affected, one in three may become victims of identity theft, according to research firm Javelin. ...

New Bond script stolen in Sony hack

1 hour ago

An "early version" of the screenplay for the new James Bond film was the latest victim of a massive hacking attack on Sony Pictures Entertainment, its producers said in a statement on their website Sunday.

Ag-tech could change how the world eats

6 hours ago

Investors and entrepreneurs behind some of the world's newest industries have started to put their money and tech talents into farming - the world's oldest industry - with an audacious agenda: to make sure there is enough ...

Recommended for you

User comments : 0

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.