Navigation Links
Researchers discover gene for branchio-oculo-facial syndrome
Date:4/23/2008

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.


'/>"/>

Contact: Gina DiGravio
gina.digravio@bmc.org
617-638-8491
Boston University
Source:Eurekalert

Page: 1

Related biology news :

1. Researchers reveal structure of protein that repairs damage to cancer cells
2. Purdue researchers propose way to incorporate deforestation into climate change treaty
3. Fox Chase researchers discover a method for clamping down on a cancer-promoting enzyme
4. FISH-BOL: NOAA researchers help build a global reference library of DNA barcodes
5. Researchers uncover details about how dietary restriction slows down aging
6. Researchers discover critical detail of cellular defense against genetic mistakes
7. Researchers bridge the terahertz gap with new tunable metamaterial
8. NIST, Army researchers pave the way for anthrax spore standards
9. Researchers mimic bacteria to produce magnetic nanoparticles
10. Vitamin D and calcium influence cell death in the colon, researchers find
11. UD researchers discover novel gene toggles in worlds top food crop
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:11/29/2016)... , Nov. 29, 2016   Neurotechnology ... and object recognition technologies, today released FingerCell ... fingerprint recognition solutions that run on low-power, ... template using less than 128KB of memory, ... devices that have limited on-board resources, such ...
(Date:11/22/2016)... MINNETONKA, Minn. , Nov. 22, 2016   ... that supports the entire spectrum of clinical research, is ... by Medical LiveWire Healthcare and Life Sciences Awards ... This award caps off an unprecedented year of recognition ... clinical trials for over 15 years. iMedNet ...
(Date:11/16/2016)... Sensory Inc ., a Silicon ... consumer electronics, and VeriTran , a technology ... today announced a global partnership that will provide ... users of mobile banking and mobile payments solutions.  ... which requires no specialized biometric scanners, yet provides ...
Breaking Biology News(10 mins):
(Date:12/7/2016)... ... December 07, 2016 , ... Kara Dwyer Dodge grew up hearing stories of the ... fisherman in Scituate, Mass., found a sea turtle entangled in the lines of one of ... became a minor sensation because no one could remember ever seeing one so large so ...
(Date:12/6/2016)... , ... December 06, 2016 ... ... the Almac Group, the world’s largest privately-held contract pharmaceutical development and manufacturing ... Health, a leading biopharma outsourcing company combining a leading CRO and the ...
(Date:12/6/2016)... , ... December 06, 2016 , ... ... custom industrial automation and IT solutions, today announced the company has successfully completed ... delivered professionally executed automation and control systems integration services to leading companies in ...
(Date:12/6/2016)... 6, 2016 According to a new market ... (Polymer, Glass, Silicon), Application (Genomics, Proteomics, Capillary Electrophoresis, POC, Clinical, Environmental, ... global market is projected to reach USD 8.78 Billion by 2021 ... during the forecast period (2016 to 2021). ... ...
Breaking Biology Technology: