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: New gene technique identifies previously hidden causes of brain malformation

add to favorites email to friend print save as pdf

Related Stories

How yeast formations got started

Aug 15, 2014

Researchers conducted a comparative analysis of nearly 60 fungal genomes to determine the genetic traits that enabled the convergent evolution of yeasts.

Counter crop patents by freeing seeds to feed the world

Aug 14, 2014

Today, just three companies – Monsanto, DuPont and Syngenta – account for about half of all commercial seed sales. More and more, agricultural patents are used to increase the control these and similar ...

Recommended for you

Gene therapy protects mice from heart condition

15 hours ago

A new gene therapy developed by researchers at the University of Missouri School of Medicine has been shown to protect mice from a life-threatening heart condition caused by muscular dystrophy.

Study finds crucial step in DNA repair

Aug 18, 2014

Scientists at Washington State University have identified a crucial step in DNA repair that could lead to targeted gene therapy for hereditary diseases such as "children of the moon" and a common form of ...

User comments : 0