Next-gen sequencing identifies genes associated with speech disorder

October 25, 2013

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.

Childhood apraxia of speech (CAS) is a rare, severe 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 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 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 with complex phenotypes will be found to have deleterious variants in multiple ; single gene testing would be unlikely to identify such cases."

Explore further: Whole-exome sequencing IDs genetic cause in quarter of cases

More information: www.jneurodevdisorders.com/content/5/1/29

Related Stories

Surprising findings from Exome Sequencing Project reported

November 6, 2012

A multi-institutional team of researchers has sequenced the DNA of 6,700 exomes, the portion of the genome that contains protein-coding genes, as part of the National Heart, Lung and Blood Institute (NHLBI)-funded Exome Sequencing ...

Recommended for you

Questions, concerns about 'three-parent' baby

September 28, 2016

The surprise announcement that a healthy baby boy was born from a new technique mixing the DNA of two women and a man raises as many questions—scientific and ethical—as it settles, experts said Wednesday.

Regulatory RNA essential to DNA damage response

September 26, 2016

Stanford researchers have found that a tumor suppressor known as p53 is stabilized by a regulatory RNA molecule called DINO. The interaction helps a cell respond to DNA damage and may play a role in cancer development and ...

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.