Featured Research

from universities, journals, and other organizations

Mutations in one gene cause craniosynostosis, delayed tooth eruption and supernumerary teeth

Date:
July 7, 2011
Source:
University of Helsinki
Summary:
Researchers have described a new, recessively inherited human syndrome featuring craniosynostosis, maxillary hyperplasia, delayed tooth eruption and extra teeth. The researchers also identified causative mutations in a gene IL11RA.

Researchers have described a new, recessively inherited human syndrome featuring craniosynostosis, maxillary hyperplasia, delayed tooth eruption and extra teeth. They also identified causative mutations in a gene IL11RA.

Related Articles


In craniosynostosis, the sutures between skull bones become ossified prematurely, affecting skull shape and limiting space for the growth of the brain. It is observed in 1:2500 and often requires operative surgery. Supernumerary teeth are more common, and in most cases they also require dental surgery.

A combination of these anomalies was observed in four children of a Pakistani family living in Denmark. Extra teeth developed in positions suggesting that they may represent a third set of teeth, the formation of which is normally prevented in humans.

The parents of the family were first cousins, which made it possible to localize the gene in the genome (so called homozygosity mapping) and identify the mutation, causing a change of a single amino acid, in a gene for interleukin 11 receptor alpha (IL11RA). This is a protein on cell surface that binds the extracellular interleukin 11 and makes possible for the cells to sense the presence of this factor. When tested in cultured cell lines, the mutation inactivated the function of the receptor.

The researchers also found four other mutations in IL11RA in patients from Pakistan, England and The Netherlands.

"This is a quite novel discovery as IL11 -- or the signaling pathway it belongs to -- has not previously been associated with any inherited human disorders," says Dr. Pekka Nieminen, the leader of the study (University of Helsinki). "The results show that IL11 signaling is essential for the normal development of craniofacial bones and teeth, and that its function is to restrict suture fusion and tooth number."

"We believe that normally IL11 mediates the complex tissue interactions that regulate replacement tooth development in mammals. In skull, IL11 signals are probably needed to regulate a process called bone remodeling in the edges of the skull bones, including site-specific regulation of bone apposition and bone resorption. Eruption of permanent teeth was also delayed in the patients with IL11RA mutations, and it may well be explained by defects in bone resorption that is necessary for teeth to erupt."

Exactly how and why the mutations lead to craniosynostosis may be possible to study in a knockout mouse model as the researchers also registered a peculiar growth anomaly, shortening and skewing of the snout.

"In the future it may be possible to use modulation of IL11 signaling for treatment of craniosynostosis," Dr. Nieminen believes.


Story Source:

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


Cite This Page:

University of Helsinki. "Mutations in one gene cause craniosynostosis, delayed tooth eruption and supernumerary teeth." ScienceDaily. ScienceDaily, 7 July 2011. <www.sciencedaily.com/releases/2011/07/110707121928.htm>.
University of Helsinki. (2011, July 7). Mutations in one gene cause craniosynostosis, delayed tooth eruption and supernumerary teeth. ScienceDaily. Retrieved April 18, 2015 from www.sciencedaily.com/releases/2011/07/110707121928.htm
University of Helsinki. "Mutations in one gene cause craniosynostosis, delayed tooth eruption and supernumerary teeth." ScienceDaily. www.sciencedaily.com/releases/2011/07/110707121928.htm (accessed April 18, 2015).

Share This


More From ScienceDaily



More Health & Medicine News

Saturday, April 18, 2015

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Our Love Of Puppy Dog Eyes Explained By Science

Our Love Of Puppy Dog Eyes Explained By Science

Newsy (Apr. 17, 2015) Researchers found a spike in oxytocin occurs in both humans and dogs when they gaze into each other&apos;s eyes. Video provided by Newsy
Powered by NewsLook.com
Scientists Find Link Between Gestational Diabetes And Autism

Scientists Find Link Between Gestational Diabetes And Autism

Newsy (Apr. 17, 2015) Researchers who analyzed data from over 300,000 kids and their mothers say they&apos;ve found a link between gestational diabetes and autism. Video provided by Newsy
Powered by NewsLook.com
Video Messages Help Reassure Dementia Patients

Video Messages Help Reassure Dementia Patients

AP (Apr. 17, 2015) Family members are prerecording messages as part of a unique pilot program at the Hebrew Home in New York. The videos are trying to help victims of Alzheimer&apos;s disease and other forms of dementia break through the morning fog of forgetfulness. (April 17) Video provided by AP
Powered by NewsLook.com
Boy or Girl? Intersex Awareness Is on the Rise

Boy or Girl? Intersex Awareness Is on the Rise

AP (Apr. 17, 2015) At least 1 in 5,000 U.S. babies are born each year with intersex conditions _ ambiguous genitals because of genetic glitches or hormone problems. Secrecy and surgery are common. But some doctors and activists are trying to change things. (April 17) 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