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 November 26, 2014 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 November 26, 2014).

Share This


More From ScienceDaily



More Health & Medicine News

Wednesday, November 26, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

From Popcorn To Vending Snacks: FDA Ups Calorie Count Rules

From Popcorn To Vending Snacks: FDA Ups Calorie Count Rules

Newsy (Nov. 25, 2014) — The US FDA is announcing new calorie rules on Tuesday that will require everywhere from theaters to vending machines to include calorie counts. Video provided by Newsy
Powered by NewsLook.com
Daily Serving Of Yogurt Could Reduce Risk Of Type 2 Diabetes

Daily Serving Of Yogurt Could Reduce Risk Of Type 2 Diabetes

Newsy (Nov. 25, 2014) — Need another reason to eat yogurt every day? Researchers now say it could reduce a person's risk of developing type 2 diabetes. Video provided by Newsy
Powered by NewsLook.com
Madagascar Working to Contain Plague Outbreak

Madagascar Working to Contain Plague Outbreak

AFP (Nov. 24, 2014) — Madagascar said Monday it is trying to contain an outbreak of plague -- similar to the Black Death that swept Medieval Europe -- that has killed 40 people and is spreading to the capital Antananarivo. Duration: 00:42 Video provided by AFP
Powered by NewsLook.com
Are Female Bosses More Likely To Be Depressed?

Are Female Bosses More Likely To Be Depressed?

Newsy (Nov. 24, 2014) — A new study links greater authority with increased depressive symptoms among women in the workplace. 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