Featured Research

from universities, journals, and other organizations

Next-gen sequencing identifies genes associated with speech disorder

Date:
October 25, 2013
Source:
Medical College of Wisconsin
Summary:
A collaborative team of researchers has used next generation sequencing to identify clinically relevant genetic variants associated with a rare pediatric speech disorder.

A collaborative team of researchers has used next generation sequencing to identify clinically relevant genetic variants associated with a rare pediatric speech disorder. The findings are published in the September 16, 2013 issue of the Journal of Neurodevelopmental Disorders.

Related Articles


Childhood apraxia of speech (CAS) is a rare, severe speech disorder that in some patients also affects cognitive, language, and learning processes.

In this study, Elizabeth Worthey, PhD, assistant professor of pediatrics (genomic pediatrics and bioinformatics) at the Medical College of Wisconsin, working with Dr. Lawrence Shriberg at the Waisman Center, University of Wisconsin – Madison and their colleagues used whole exome sequencing to search for variants associated with CAS.

Prior studies have identified a few genes associated with CAS. In this study, ten pediatric patients were sequenced, and in eight of the cases, clinically significant variants associated with CAS were identified. In some cases patients were found to have apparently deleterious variants in more than one gene. The findings both confirmed previous reports of candidate causal genes and identified novel candidate associations.

"This study exemplifies the potential productivity of whole exome sequencing for complex neurodevelopmental disorders such as CAS. The current list price to test individual genes is far in excess of the cost of whole exome, and it is also more time effective to perform these tests concurrently rather than looking at one gene at a time," said Dr. Worthey. "It is likely that a significant proportion of patients with complex phenotypes will be found to have deleterious variants in multiple genes; single gene testing would be unlikely to identify such cases."


Story Source:

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


Journal Reference:

  1. Elizabeth A Worthey, Gordana Raca, Jennifer J Laffin, Brandon M Wilk, Jeremy M Harris, Kathy J Jakielski, David P Dimmock, Edythe A Strand, Lawrence D Shriberg. Whole-exome sequencing supports genetic heterogeneity in childhood apraxia of speech. Journal of Neurodevelopmental Disorders, 2013; 5 (1): 29 DOI: 10.1186/1866-1955-5-29

Cite This Page:

Medical College of Wisconsin. "Next-gen sequencing identifies genes associated with speech disorder." ScienceDaily. ScienceDaily, 25 October 2013. <www.sciencedaily.com/releases/2013/10/131025113918.htm>.
Medical College of Wisconsin. (2013, October 25). Next-gen sequencing identifies genes associated with speech disorder. ScienceDaily. Retrieved October 31, 2014 from www.sciencedaily.com/releases/2013/10/131025113918.htm
Medical College of Wisconsin. "Next-gen sequencing identifies genes associated with speech disorder." ScienceDaily. www.sciencedaily.com/releases/2013/10/131025113918.htm (accessed October 31, 2014).

Share This



More Health & Medicine News

Friday, October 31, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

U.S. Ebola Response Measures Demonstrated

U.S. Ebola Response Measures Demonstrated

AP (Oct. 31, 2014) Officials in the Washington area showed off Ebola response measures being taken at Dulles International Airport and the National Institutes of Health. (Oct. 31) Video provided by AP
Powered by NewsLook.com
Fauci Says Ebola Risk in US "essentially Zero"

Fauci Says Ebola Risk in US "essentially Zero"

AP (Oct. 30, 2014) NIAID Director Anthony Fauci said the risk of Ebola becoming an epidemic in the U.S. is essentially zero Thursday at the Washington Ideas Forum. He also said an Ebola vaccine will be tested in West Africa in the next few months. (Oct. 30) Video provided by AP
Powered by NewsLook.com
Nurse Defies Ebola Quarantine With Bike Ride

Nurse Defies Ebola Quarantine With Bike Ride

AP (Oct. 30, 2014) A nurse who vowed to defy Maine's voluntary quarantine for health care workers who treated Ebola patients followed through on her promise Thursday, leaving her home for an hour-long bike ride. (Oct. 30) Video provided by AP
Powered by NewsLook.com
Pot-Infused Edibles Raise Concerns in Colorado

Pot-Infused Edibles Raise Concerns in Colorado

AFP (Oct. 30, 2014) Colorado may have legalized marijuana for recreational use, but the debate around the decision still continues, with a recent - failed - attempt to ban cannabis-infused edibles. Duration: 01:53 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