HOME >> BIOLOGY >> NEWS
Noggin mutation causes rare congenital hearing loss

ANN ARBOR, MI - If hearing loss runs in your family and the doctor says it's otosclerosis, it may be important to see a genetic counselor as well as a surgeon, according to new research from the University of Michigan Medical School.

Otosclerosis is a form of progressive conductive hearing loss, which usually begins in young adulthood. It occurs when a bone in the middle ear called the stapes becomes immobilized or fixed, which prevents it from transmitting sound vibrations from the outside world to the inner ear and brain.

"About 1 percent of Americans have been diagnosed with otosclerosis, but it may affect up to 10 percent of the total population," says Marci Lesperance, M.D., an assistant professor of otolaryngology-head and neck surgery in the U-M Medical School.

In recent research, Lesperance and her colleagues discovered the gene underlying a rare hearing loss syndrome, called autosomal dominant stapes ankylosis, which is easily confused with otosclerosis. People with this condition have the same fixed stapes bones as those with otosclerosis, but their hearing loss is present at birth and doesn't get worse as they grow up. People with the syndrome are often farsighted and have unusually broad thumbs and great toes, as well as other skeletal abnormalities.

Lesperance says the syndrome is caused by a genetic mutation occurring early in embryonic development. Since the mutated gene is dominant over the normal version, a child has a 50:50 chance of being born with the syndrome, if one parent carries the mutation.

Comparing DNA from nine members of one family and three members of another family with closely related symptoms, U-M researchers found similar mutations in a gene called NOG. NOG holds genetic instructions for the production of noggin - an essential protein for normal bone and joint development in humans and all mammals. One family member in the study who did not have the syndrome, spouses of family members, an
'"/>

Contact: Sally Pobojewski
pobo@umich.edu
734-615-6912
University of Michigan Health System
26-Jul-2002


Page: 1 2

Related biology news :

1. Genetic mutations linked to the practice of burning coal in homes in China
2. Spontaneous mutation produces new MAO A/B knockout mouse
3. How an insidious mutation fools DNA replication
4. Using statistics to decipher secrets of natural mutation
5. Rare mutations can significantly increase risk factor for heart disease
6. Genetic mutation linked to more aggressive breast cancer found more often in African-Americans
7. LBP-1a gene mutation linked to disruption of normal fetal development
8. Genetic mutation found that is major contributor to type 1 diabetes
9. The mother lode of mutations
10. Gene mutation causes progressive changes to cell structure in children with Progeria
11. Single gene mutation muddying Parkinsons risk forecasts

Post Your Comments:
*Name:
*Comment:
*Email:
TAG: Noggin mutation causes rare congenital hearing loss

(Date:5/20/2013)... articles posted online ahead of print 9 ... of geoscience subdisciplines, including minerals exploration, archaeology, planetary ... include Siberia; the Sumatran subduction margin; the Monte ... and the Southeastern U.S. Atlantic Margin. Brief highlights ... tectonics;, 2. The clear fingerprint of ice ages ...
(Date:5/19/2013)... engineered a strain of photosynthetic cyanobacteria to grow without ... today at the 113th General Meeting of the American ... synthetic biology approaches to probe and rewire photoautotrophic (exclusively ... cyanobacterial metabolism for the ability to grow without light ... study. He is part of Shota Atsumi,s lab ...
(Date:5/18/2013)... Research presented at Digestive Disease Week (DDW) explores ... and lifestyle. , Individuals suffering from Crohn,s ... fatigue and poor quality of life. These symptoms ... A randomized, double blind, placebo-controlled study found for ... to significant relief of these symptoms. , ...
Breaking Biology News(10 mins):New in GEOLOGY: Gems, Darwin, Mars, Hemp, Snowball Earth, a Siberian Impact Crater, and More 2New in GEOLOGY: Gems, Darwin, Mars, Hemp, Snowball Earth, a Siberian Impact Crater, and More 3New in GEOLOGY: Gems, Darwin, Mars, Hemp, Snowball Earth, a Siberian Impact Crater, and More 4New in GEOLOGY: Gems, Darwin, Mars, Hemp, Snowball Earth, a Siberian Impact Crater, and More 5New in GEOLOGY: Gems, Darwin, Mars, Hemp, Snowball Earth, a Siberian Impact Crater, and More 6New in GEOLOGY: Gems, Darwin, Mars, Hemp, Snowball Earth, a Siberian Impact Crater, and More 7New in GEOLOGY: Gems, Darwin, Mars, Hemp, Snowball Earth, a Siberian Impact Crater, and More 8New in GEOLOGY: Gems, Darwin, Mars, Hemp, Snowball Earth, a Siberian Impact Crater, and More 9New in GEOLOGY: Gems, Darwin, Mars, Hemp, Snowball Earth, a Siberian Impact Crater, and More 10New in GEOLOGY: Gems, Darwin, Mars, Hemp, Snowball Earth, a Siberian Impact Crater, and More 11Research examines new methods for managing digestive health 2Research examines new methods for managing digestive health 3
(Date:5/21/2013)... Austin, TX (PRWEB) May 21, 2013 ... and outdoor security solutions, today announced that Genzyme, a ... more units of Door Detective® CL for a multi-use ... already installed in four other Genzyme buildings, this latest ... had with the tailgate detection device improving ...
(Date:5/21/2013)... Many have long discussed the link between mental ... from Clinical Psychiatry.com readdressed the topic of ... suggested using hypnotherapy and other mental health ... that cause acne. , Doctors in the article mentioned ... stress causes changes in the skin that have been ...
(Date:5/21/2013)... May 21, 2013  Synthetic Biologics, Inc. (NYSE MKT: SYN), ... of serious infectious diseases, announced today that Jeffrey ... Annual Marcum LLP MicroCap Conference on Thursday, May 30, ... the Grand Hyatt Hotel. Mr. Riley is scheduled to present ... of Synthetic Biologics, presentation can be accessed by logging onto ...
(Date:5/21/2013)... May 21, 2013 Revolutionary Science, the ... colony counter, announced today that they have expanded their ... , the IncuCount, IntelliCount, InCount and ImpressCount. These ... are especially useful in food microbiology and pharmaceutical manufacturing. ... updated look. A bright white enclosure with jet ...
Breaking Biology Technology:Door Security at Genzyme, a Sanofi Company, Enhanced with Door Detective from Smarter Security 2Door Security at Genzyme, a Sanofi Company, Enhanced with Door Detective from Smarter Security 3Adult Acne Treatment, Probiotic Action Explains How Hypnotherapy and Probiotics May Cure Various Skin Conditions 2Synthetic Biologics to Present at the 2nd Annual Marcum LLP MicroCap Conference 2Revolutionary Science Announces New Automatic and Manual Colony Counting Products 2
Cached News: