Featured Research

from universities, journals, and other organizations

Mutations in ASXL3 cause problems similar to Bohring-Opitz syndrome

Date:
February 5, 2013
Source:
BioMed Central Limited
Summary:
Mutations which affect the gene ASXL3 cause a novel syndrome similar to Bohring-Opitz syndrome, finds a a new study. This molecular definition distinguishes these children from those with Bohring-Opitz, and other similar syndromes, and highlights a technique able to help define rare diseases.

Mutations which affect the gene ASXL3 cause a novel syndrome similar to Bohring-Opitz syndrome, finds a study published in BioMed Central's open access journal Genome Medicine. This molecular definition distinguishes these children from those with Bohring-Opitz, and other similar syndromes, and highlights a technique able to help define rare diseases.

Related Articles


When Dr Ropers from the Max-Planck Institute for Molecular Genetics in Berlin found a child with non-specific symptoms, including small size at birth, difficulties with movement and feeding, severe intellectual disability, and with distinctive facial features, he looked to see if there was a gene involved. Using genome-wide sequencing, researchers found that the child had a 'truncating' mutation in the gene ASXL3 not present in either parent.

ASXL3 is in the same family of proteins as ASXL1 and about half of all children with Bohring-Opitz syndrome have a truncating mutation in their gene for ASXL1. This results in production of a short protein unable to behave properly in the cell and, because ASXL1 is a repressor protein, disrupts the proper function of many genes which would normally be switched off.

From looking at one child it was impossible to be sure that the problem with ASXL3 was responsible for the child's condition in the same way as ASXL1 and Bohring-Opitz. However three other unrelated children, from the USA, who also had the same kind of non-specific syndrome, also had truncating mutations in ASXL3.

Dr Matthew Bainbridge from Baylor College of Medicine, who led this study explained, "Our study provides a molecular definition of this new syndrome, which is difficult to distinguish from Bohring-Opitz from the physical effects on the children alone. Although it is not curable, improving diagnosis can help parents and improve the quality of life of the child. In all of these cases the mutation was not inherited so the chances of having a second child with this syndrome was exceedingly rare."

This study also demonstrates a need for sharing genomic data from patients. Dr Bainbridge continued, "It was only by talking to doctors and researchers at the Max-Planck-Institute for Molecular Genetics, and Alfred I. duPont Hospital for Children that we discovered that there were several children with this condition. The more open data we have for these rare conditions the easier it will be to continue research."


Story Source:

The above story is based on materials provided by BioMed Central Limited. Note: Materials may be edited for content and length.


Journal Reference:

  1. Matthew N Bainbridge, Hao Hu, Donna M Muzny, Luciana Musante, James R Lupski, Brett H Graham, Wei Chen, Karen W Gripp, Kim Jenny, Thomas F Wienker, Yaping Yang, V REID Sutton, Richard A Gibbs, H HILGER Ropers. De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome. Genome Medicine, 2013; 5 (2): 11 DOI: 10.1186/gm415

Cite This Page:

BioMed Central Limited. "Mutations in ASXL3 cause problems similar to Bohring-Opitz syndrome." ScienceDaily. ScienceDaily, 5 February 2013. <www.sciencedaily.com/releases/2013/02/130204220814.htm>.
BioMed Central Limited. (2013, February 5). Mutations in ASXL3 cause problems similar to Bohring-Opitz syndrome. ScienceDaily. Retrieved March 30, 2015 from www.sciencedaily.com/releases/2013/02/130204220814.htm
BioMed Central Limited. "Mutations in ASXL3 cause problems similar to Bohring-Opitz syndrome." ScienceDaily. www.sciencedaily.com/releases/2013/02/130204220814.htm (accessed March 30, 2015).

Share This


More From ScienceDaily



More Health & Medicine News

Monday, March 30, 2015

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Soda, Salt and Sugar: The Next Generation of Taxes

Soda, Salt and Sugar: The Next Generation of Taxes

Washington Post (Mar. 30, 2015) — Denisa Livingston, a health advocate for the Dinι Community Advocacy Alliance, and the Post&apos;s Abby Phillip discuss efforts around the country to make unhealthy food choices hurt your wallet as much as your waistline. Video provided by Washington Post
Powered by NewsLook.com
UnitedHealth Buys Catamaran

UnitedHealth Buys Catamaran

Reuters - Business Video Online (Mar. 30, 2015) — The $12.8 billion merger will combine the U.S.&apos; third and fourth largest pharmacy benefit managers. Analysts say smaller PBMs could also merge. Fred Katayama reports. Video provided by Reuters
Powered by NewsLook.com
S. Leone in New Anti-Ebola Lockdown

S. Leone in New Anti-Ebola Lockdown

AFP (Mar. 28, 2015) — Sierra Leone imposed a three-day nationwide lockdown Friday for the second time in six months in a bid to prevent a resurgence of the deadly Ebola virus. Duration: 01:17 Video provided by AFP
Powered by NewsLook.com
These Popular Antibiotics Can Cause Permanent Nerve Damage

These Popular Antibiotics Can Cause Permanent Nerve Damage

Newsy (Mar. 27, 2015) — A popular class of antibiotic can leave patients in severe pain and even result in permanent nerve damage. 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:

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