Featured Research

from universities, journals, and other organizations

Discovery Of Facial Malformation Gene

Date:
June 19, 2009
Source:
University of Oxford
Summary:
The first specific genetic mutation which can cause a potentially serious facial disfigurement has been identified by researchers at Oxford University. The finding offers the promise of improved genetic counseling for parents at risk.

The first specific genetic mutation which can cause a potentially serious facial disfigurement has been identified by researchers at Oxford University.
Credit: Copyright Oxford University

The first specific genetic mutation which can cause a potentially serious facial disfigurement has been identified by researchers at Oxford University. The finding, published online in the American Journal of Human Genetics, offers the promise of improved genetic counselling for parents at risk.

Related Articles


Formation of the human face is a complex and exquisitely orchestrated developmental process that occurs between four and eight weeks of embryonic development. Disturbance to this development can lead to malformations of the head and face, including abnormal nasal configuration, cleft lip, and widely spaced eyes.

Most cases of disfigurement are caused by damage to the developing embryo early in pregnancy; genetic causes are thought to be responsible for only a minority of cases, and these usually also involve other parts of the body. No mutation of a single gene has previously been identified that leads specifically to facial malformations.

Researchers, led by Professor Andrew Wilkie from the Weatherall Institute for Molecular Medicine at the University of Oxford and Dr Irene Mathijssen from the Erasmus Medical Centre in the Netherlands and funded by the Wellcome Trust, identified individuals from seven families who shared a similar, distinctive facial appearance, including an abnormally large distance between the eyes and a wide, malformed nose. They termed this condition ‘frontorhiny’.

Genetic analysis showed that each of the individuals carried two copies of a mutation in the gene ALX3. Mouse models have previously highlighted the involvement of the equivalent gene in the production of a protein which regulates other genes involved in facial development – in other words, switching them on and off. However, while the absence of the protein produced by this gene does not disrupt facial development in mice, Professor Wilkie and colleagues found that in humans it leads to frontorhiny.

‘Frontorhiny can be a very distressing condition,’ says Professor Wilkie. ‘It causes facial disfigurement and other health problems, such as breathing difficulties and dermoids (benign cysts under the skin). The cosmetic surgery can be very challenging, requiring multiple operations.’

By identifying and naming the condition, the researchers believe that they will be able to diagnose more cases and provide improved genetic counselling. Because this is a recessive genetic disorder, a parent with the condition is very unlikely to have a similarly affected child. However, where unaffected parents have a child with the condition, they have a one in four chance of each future child being affected.

‘This finding is very important from the point of view of genetic counselling and offers hope to those families considered to be at risk,’ explains Professor Wilkie. ‘For example, by correctly diagnosing the condition in an adult, we can reassure them that their children are unlikely be affected.’

Professor Wilkie believes that the research also highlights the power of genetics to identify the origins of genetic disorders.

‘This study illustrates the tremendous power of genetics to identify the origins of rare disorders such as frontorhiny, even when working with very small numbers of individuals. In this research, just three affected individuals helped us to narrow the search for the particular genetic mutation responsible to around one three thousandth of the human genome. The previous mouse genetic work then helped finish the job for us.’


Story Source:

The above story is based on materials provided by University of Oxford. Note: Materials may be edited for content and length.


Cite This Page:

University of Oxford. "Discovery Of Facial Malformation Gene." ScienceDaily. ScienceDaily, 19 June 2009. <www.sciencedaily.com/releases/2009/05/090515153927.htm>.
University of Oxford. (2009, June 19). Discovery Of Facial Malformation Gene. ScienceDaily. Retrieved March 26, 2015 from www.sciencedaily.com/releases/2009/05/090515153927.htm
University of Oxford. "Discovery Of Facial Malformation Gene." ScienceDaily. www.sciencedaily.com/releases/2009/05/090515153927.htm (accessed March 26, 2015).

Share This


More From ScienceDaily



More Health & Medicine News

Thursday, March 26, 2015

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

House Ready to Pass Medicare Doc Bill

House Ready to Pass Medicare Doc Bill

AP (Mar. 26, 2015) In rare bipartisan harmony, congressional leaders pushed a $214 billion bill permanently blocking physician Medicare cuts toward House passage Thursday, moving lawmakers closer to resolving a problem that has plagued them for years. (March 26) Video provided by AP
Powered by NewsLook.com
HIV Outbreak Prompts Public Health Emergency In Indiana

HIV Outbreak Prompts Public Health Emergency In Indiana

Newsy (Mar. 26, 2015) Indiana Gov. Mike Pence says he will bring additional state resources to help stop the epidemic. Video provided by Newsy
Powered by NewsLook.com
AAA: Distracted Driving a Serious Teen Problem

AAA: Distracted Driving a Serious Teen Problem

AP (Mar. 25, 2015) While distracted driving is not a new problem for teens, new research from the AAA Foundation for Traffic Safety says it&apos;s much more serious than previously thought. (March 25) Video provided by AP
Powered by NewsLook.com
Obama: Affordable Care Act 'saving Lives'

Obama: Affordable Care Act 'saving Lives'

AP (Mar. 25, 2015) Speaking at a White House event marking the fifth anniversary of the Affordable Care Act, President Barack Obama says the law is "saving lives that touch all of us." (March 25) Video provided by AP
Powered by NewsLook.com

Search ScienceDaily

Number of stories in archives: 140,361

Find with keyword(s):
Enter a keyword or phrase to search ScienceDaily for related topics and research stories.

Save/Print:
Share:

Breaking News:

Strange & Offbeat Stories


Health & Medicine

Mind & Brain

Living & Well

In Other News

... from NewsDaily.com

Science News

Health News

Environment News

Technology News



Save/Print:
Share:

Free Subscriptions


Get the latest science news with ScienceDaily's free email newsletters, updated daily and weekly. Or view hourly updated newsfeeds in your RSS reader:

Get Social & Mobile


Keep up to date with the latest news from ScienceDaily via social networks and mobile apps:

Have Feedback?


Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?
Mobile: iPhone Android Web
Follow: Facebook Twitter Google+
Subscribe: RSS Feeds Email Newsletters
Latest Headlines Health & Medicine Mind & Brain Space & Time Matter & Energy Computers & Math Plants & Animals Earth & Climate Fossils & Ruins