Featured Research

from universities, journals, and other organizations

New gene responsible for cleft lip, palate syndrome identified

Date:
December 19, 2013
Source:
Karolinska Institutet
Summary:
An international team has identified a new gene related to the Van der Woude syndrome, the most common syndrome with cleft lip and palate. The study can lead the way to improved genetic diagnostic of individuals and families with orofacial clefts.

An international team led by researchers from Karolinska Institutet has identified a new gene related to the Van der Woude syndrome, the most common syndrome with cleft lip and palate. The study is published in the scientific periodical American Journal of Human Genetics and can lead the way to improved genetic diagnostic of individuals and families with orofacial clefts.

Related Articles


Cleft lip and palate is one of the most common birth defects and can be found in the form of cleft lip or cleft palate alone; or cleft lip and palate together. They may occur together with other malformations, forming a syndrome. There are more than 350 syndromes with clefts, of which Van der Woude syndrome (VWS) is the most common. Approximately 70 per cent of the individuals with VWS have a mutation in a gene called interferon regulatory factor 6 (IRF6).

Now, through an international collaboration between researchers from Sweden, USA, Finland and Israel, a second gene related to VWS has been found. The researchers started by doing a so called genetic linkage study of a large family from Finland. The family had been diagnosed with VWS, albeit no IRF6 mutations had been found. By comparing the DNA of affected individuals with DNA from healthy family members, the researchers identified another gene, called Grainy-head like 3 (GRHL3), which was mutated only in the affected family members. The same gene was found to be altered in 7 additional families with VWS where no IRF6 mutations had been found previously.

"The discovery of a new gene, GRHL3, responsible for the most common of the syndromic forms of cleft lip and palate means that researcher or clinicians with collections of families or isolated cases with cleft lip and palate, syndromic or non-syndromic, now will be able to look for mutations in this gene," says Myriam Peyrard-Janvid, at the Department of Biosciences and Nutrition, Karolinska Institutet, the leading researcher of this large collaborative study. "As it has been shown for IRF6, one or several polymorphisms in GRHL3 might be found to be associated with increased risk of clefts in non-syndromic cases."

To further investigate the role of GRHL3 in oral abnormalities, six laboratories collaborated and studied human mutations of the gene in zebrafish and mouse models. They found that mouse embryos lacking GRHL3 cannot form a proper palate and are born with a cleft. GRHL3 encodes a transcription factor that is itself regulated by IRF6. The authors conclude that both genes are required for a proper formation of the palate, probably functioning in separate but convergent molecular pathways. The study highlights the importance of studying even rare patients to increase our understanding of disease mechanisms.


Story Source:

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


Journal Reference:

  1. Myriam Peyrard-Janvid, Elizabeth J. Leslie, Youssef A. Kousa, Tiffany L. Smith, Martine Dunnwald, Måns Magnusson, Brian A. Lentz, Per Unneberg, Ingegerd Fransson, Hannele K. Koillinen, Jorma Rautio, Marie Pegelow, Agneta Karsten, Lina Basel-Vanagaite, William Gordon Bogi Andersen, Thomas Svensson, Jeffrey C. Murray, Robert A. Cornell, Juha Kere, and Brian C. Schutte. Dominant mutations in GRHL3 cause Van der Woude syndrome and disrupt oral periderm Development. American Journal of Human Genetics, December 2013

Cite This Page:

Karolinska Institutet. "New gene responsible for cleft lip, palate syndrome identified." ScienceDaily. ScienceDaily, 19 December 2013. <www.sciencedaily.com/releases/2013/12/131219130736.htm>.
Karolinska Institutet. (2013, December 19). New gene responsible for cleft lip, palate syndrome identified. ScienceDaily. Retrieved December 18, 2014 from www.sciencedaily.com/releases/2013/12/131219130736.htm
Karolinska Institutet. "New gene responsible for cleft lip, palate syndrome identified." ScienceDaily. www.sciencedaily.com/releases/2013/12/131219130736.htm (accessed December 18, 2014).

Share This


More From ScienceDaily



More Health & Medicine News

Thursday, December 18, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Kids Die While Under Protective Services

Kids Die While Under Protective Services

AP (Dec. 18, 2014) — As part of a six-month investigation of child maltreatment deaths, the AP found that hundreds of deaths from horrific abuse and neglect could have been prevented. AP's Haven Daley reports. (Dec. 18) Video provided by AP
Powered by NewsLook.com
UN: Up to One Million Facing Hunger in Ebola-Hit Countries

UN: Up to One Million Facing Hunger in Ebola-Hit Countries

AFP (Dec. 17, 2014) — Border closures, quarantines and crop losses in West African nations battling the Ebola virus could lead to as many as one million people going hungry, UN food agencies said on Wednesday. Duration: 00:52 Video provided by AFP
Powered by NewsLook.com
When You Lose Weight, This Is Where The Fat Goes

When You Lose Weight, This Is Where The Fat Goes

Newsy (Dec. 17, 2014) — Can fat disappear into thin air? New research finds that during weight loss, over 80 percent of a person's fat molecules escape through the lungs. Video provided by Newsy
Powered by NewsLook.com
Why Your Boss Should Let You Sleep In

Why Your Boss Should Let You Sleep In

Newsy (Dec. 17, 2014) — According to research out of the University of Pennsylvania, waking up for work is the biggest factor that causes Americans to lose sleep. Video provided by Newsy
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