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.

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 July 29, 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 July 29, 2014).

Share This




More Health & Medicine News

Tuesday, July 29, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Deadly Ebola Virus Threatens West Africa

Deadly Ebola Virus Threatens West Africa

AP (July 28, 2014) — West African nations and international health organizations are working to contain the largest Ebola outbreak in history. It's one of the deadliest diseases known to man, but the CDC says it's unlikely to spread in the U.S. (July 28) Video provided by AP
Powered by NewsLook.com
$15B Deal on Vets' Health Care Reached

$15B Deal on Vets' Health Care Reached

AP (July 28, 2014) — A bipartisan deal to improve veterans health care would authorize at least $15 billion in emergency spending to fix a veterans program scandalized by long patient wait times and falsified records. (July 28) Video provided by AP
Powered by NewsLook.com
Two Americans Contract Ebola in Liberia

Two Americans Contract Ebola in Liberia

Reuters - US Online Video (July 28, 2014) — Two American aid workers in Liberia test positive for Ebola while working to combat the deadliest outbreak of the virus ever. Linda So reports. Video provided by Reuters
Powered by NewsLook.com
Traditional African Dishes Teach Healthy Eating

Traditional African Dishes Teach Healthy Eating

AP (July 28, 2014) — Classes are being offered nationwide to encourage African Americans to learn about cooking fresh foods based on traditional African cuisine. The program is trying to combat obesity, heart disease and other ailments often linked to diet. (July 28) 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:
from the past week

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