Featured Research

from universities, journals, and other organizations

Researchers Identify Gene Causing Rare Form Of Cleft Palate

Date:
September 18, 2001
Source:
Imperial College Of Science, Technology And Medicine
Summary:
The identification of a gene that causes a rare form of the congenital defect, cleft palate, may offer an important insight into human development and the mechanisms involved in the condition. Researchers led by Dr Philip Stanier from Imperial College have found that the sex-linked form of cleft palate (CPX) and an associated form of the disorder known as tongue-tie are caused by mutations in a gene called T-box 22.

Sept. 16, 2001 -- The identification of a gene that causes a rare form of the congenital defect, cleft palate, may offer an important insight into human development and the mechanisms involved in the condition.

Related Articles


Researchers led by Dr Philip Stanier from Imperial College have found that the sex-linked form of cleft palate (CPX) and an associated form of the disorder known as tongue-tie are caused by mutations in a gene called T-box 22.

The study published online today in the journal Nature Genetics follows extensive genetic analysis of family pedigrees from diverse ethnic backgrounds over the past 14 years.

Dr Philip Stanier from the Institute of Reproductive and Developmental Biology at Imperial College’s Hammersmith campus, said: "This discovery enables us to investigate the role of a major genetic determinant required for normal palate formation and to identify other mutations that may also play roles in more common forms of the disorder."

Cleft palate is a birth defect affecting 1/1500 births as a result of malformation of the palate during key stages of pregnancy. Children born with the condition have problems with feeding, speech, hearing and psychological development and require corrective surgery involving a wide range of paediatric expertises.

"Despite the high prevalence of cleft palate little is known about the underlying causes," Dr Stanier explains: "In part, this is because most clefts arise through the disturbance to a complex but poorly understood balance between genes and the environment. The sex-linked form of cleft palate, CPX, has minimal influences from environmental factors making is easier to identify the genetic basis for this disorder."

Using data collected from Icelandic, Brazilian, Canadian and Native American families the genetic technique of positional cloning was used to identify the region on the chromosome where the gene for CXP might be (Nature 1987: 326, 91-92). Recent advances in molecular techniques enabled researchers to sequence the region and using information from the Human Genome Project candidate genes were identified.

Three possible genes, previously not implicated in human disease, were found and compared with gene sequences from family pedigrees. A number of different mutations were identified in the gene T-box 22 which, scientists say, would cause catastrophic effects to the gene and protein products.

"The T-box 22 gene gives rise to a type of protein known as a transcription factor. Transcription factors serve to regulate the activity of other genes that need to function at key stages of embryological development and play essential roles in formation of the embryo," Dr Stanier said.

"In the long term, identification of the targets for the T-box 22 protein may offer hope for a prenatal therapeutic intervention for cleft palate." he added.

The Institute of Reproductive and Developmental Biology, based at the Wolfson and Weston Research Centre for Family Health, was formed in the spring of 2001 as a multidisciplinary research centre to investigate reproduction, fetal development and neonatology with a major emphasis on intracellular signalling and gene expression.

The programme of research has been supported by the Birth Defects Foundation, the Dunhill Medical Trust, the Medical Research Council and the Hayward Foundation.


Story Source:

The above story is based on materials provided by Imperial College Of Science, Technology And Medicine. Note: Materials may be edited for content and length.


Cite This Page:

Imperial College Of Science, Technology And Medicine. "Researchers Identify Gene Causing Rare Form Of Cleft Palate." ScienceDaily. ScienceDaily, 18 September 2001. <www.sciencedaily.com/releases/2001/09/010918135021.htm>.
Imperial College Of Science, Technology And Medicine. (2001, September 18). Researchers Identify Gene Causing Rare Form Of Cleft Palate. ScienceDaily. Retrieved November 28, 2014 from www.sciencedaily.com/releases/2001/09/010918135021.htm
Imperial College Of Science, Technology And Medicine. "Researchers Identify Gene Causing Rare Form Of Cleft Palate." ScienceDaily. www.sciencedaily.com/releases/2001/09/010918135021.htm (accessed November 28, 2014).

Share This


More From ScienceDaily



More Health & Medicine News

Friday, November 28, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Rural India's Low-Cost Sanitary Pad Revolution

Rural India's Low-Cost Sanitary Pad Revolution

AFP (Nov. 28, 2014) — One man hopes his invention -– a machine that produces cheap sanitary pads –- will help empower Indian women. Duration: 01:51 Video provided by AFP
Powered by NewsLook.com
Research on Bats Could Help Develop Drugs Against Ebola

Research on Bats Could Help Develop Drugs Against Ebola

AFP (Nov. 28, 2014) — In Africa's only biosafety level 4 laboratory, scientists have been carrying out experiments on bats to understand how virus like Ebola are being transmitted, and how some of them resist to it. Duration: 01:18 Video provided by AFP
Powered by NewsLook.com
WHO Says Male Ebola Survivors Should Abstain From Sex

WHO Says Male Ebola Survivors Should Abstain From Sex

Newsy (Nov. 28, 2014) — WHO cites four studies that say Ebola can still be detected in semen up to 82 days after the onset of symptoms. Video provided by Newsy
Powered by NewsLook.com
Ebola Leaves Orphans Alone in Sierra Leone

Ebola Leaves Orphans Alone in Sierra Leone

AFP (Nov. 27, 2014) — The Ebola epidemic sweeping Sierra Leone is having a profound effect on the country's children, many of whom have been left without any family members to support them. Duration: 01:02 Video provided by AFP
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