Featured Research

from universities, journals, and other organizations

Researchers Discover Novel Genomic Disorders Causing Mental Retardation

Date:
August 14, 2006
Source:
University of Washington
Summary:
Researchers at the University of Washington and the Howard Hughes Medical Institute have discovered several new genetic causes of mental retardation, according to a study published online August 13 in Nature Genetics. One form of retardation, caused by a large deletion that spans six genes on chromosome 17, has characteristic facial, behavioral, and other physical features that can aid clinicians in identifying similar syndromes.

Researchers at the University of Washington and The Howard Hughes Medical Institute have discovered several new genetic causes of mental retardation, according to a study published online August 13 in Nature Genetics. One form of retardation, caused by a large deletion that spans six genes on chromosome 17, has characteristic facial, behavioral, and other physical features that can aid clinicians in identifying similar syndromes.

Working with colleagues in the UK and US, the researchers screened 290 children with mental retardation and identified several abnormal genetic events. The researchers were able to pinpoint the region of the specific deletion using NimbleGen's high-resolution CGH microarrays. "The ability of NimbleGen to rapidly generate custom-designed, high-density oligo arrays targeted to the specific chromosomal regions we were interested in provided us the key data in our study," stated Dr. Andrew Sharp, Senior Fellow and Rosetta Fellow of the University of Washington and first author on the paper. "Having these tools in hand gave us, in a single experiment, what would otherwise have taken months of work using conventional methods, and allowed unprecedented insight into the underlying biology and mechanism of genomic disease."

The deletion on chromosome 17 was seen in multiple children. Based on current data, this deletion potentially accounts for ~1% of cases of mental retardation, making it one of the most common genetic causes of mental retardation. The deletion, encompassing several genes, is associated with a region of DNA that is commonly reversed (or inverted) in one in five people of European descent. Intriguingly, this deletion seems to occur preferentially among children of individuals who carry the inversion.

The research was based on the hypothesis that the genome contains hotspots that are prone to instability and thus play a key role in the occurrence of genomic disorders. These hotspots are flanked on each side by large, repetitive regions of DNA, termed "segmental duplications". It is because of the repetitive nature of these regions that, during replication, the genome can become "confused" and duplicate, reverse, or delete itself within these regions.

Journal citation: Sharp AJ, Hansen S, Selzer RR, Cheng Z, Regan R, Hurst JA, Stuart H, Price SM, Blair E, Hennekam RC, Fitzpatrick CA, Segraves R, Richmond TA, Guiver C, Albertson DG, Pinkel D, Eis PS, Schwartz S, Knight SJL, Eichler EE (2006) Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome. Nature Genetics. Published online August 13th 2006, DOI 10.1038/ng1862


Story Source:

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


Cite This Page:

University of Washington. "Researchers Discover Novel Genomic Disorders Causing Mental Retardation." ScienceDaily. ScienceDaily, 14 August 2006. <www.sciencedaily.com/releases/2006/08/060814094721.htm>.
University of Washington. (2006, August 14). Researchers Discover Novel Genomic Disorders Causing Mental Retardation. ScienceDaily. Retrieved September 1, 2014 from www.sciencedaily.com/releases/2006/08/060814094721.htm
University of Washington. "Researchers Discover Novel Genomic Disorders Causing Mental Retardation." ScienceDaily. www.sciencedaily.com/releases/2006/08/060814094721.htm (accessed September 1, 2014).

Share This




More Health & Medicine News

Monday, September 1, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

We've Got Mites Living In Our Faces And So Do You

We've Got Mites Living In Our Faces And So Do You

Newsy (Aug. 30, 2014) A new study suggests 100 percent of adult humans (those over 18 years of age) have Demodex mites living in their faces. Video provided by Newsy
Powered by NewsLook.com
Liberia Continues Fight Against Ebola

Liberia Continues Fight Against Ebola

AFP (Aug. 30, 2014) Authorities in Liberia try to stem the spread of the Ebola epidemic by raising awareness and setting up sanitation units for people to wash their hands. Duration: 00:41 Video provided by AFP
Powered by NewsLook.com
California Passes 'yes-Means-Yes' Campus Sexual Assault Bill

California Passes 'yes-Means-Yes' Campus Sexual Assault Bill

Reuters - US Online Video (Aug. 30, 2014) California lawmakers pass a bill requiring universities to adopt "affirmative consent" language in their definitions of consensual sex, part of a nationwide drive to curb sexual assault on campuses. Linda So reports. Video provided by Reuters
Powered by NewsLook.com
New Drug Could Reduce Cardiovascular Deaths

New Drug Could Reduce Cardiovascular Deaths

Newsy (Aug. 30, 2014) The new drug from Novartis could reduce cardiovascular deaths by 20 percent compared to other similar drugs. Video provided by Newsy
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:
from the past week

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