Navigation Links
Mutations in autism susceptibility gene increase risk in boys
Date:7/12/2012

Researchers at Emory University School of Medicine have identified five rare mutations in a single gene that appear to increase the chances that a boy will develop an autism spectrum disorder (ASD).

Mutations in the AFF2 gene, and other genes like it on the X chromosome, may explain why autism spectrum disorders affect four times as many boys as girls.

The mutations in AFF2 appeared in 2.5 percent (5 out of 202) of boys examined. Mutations in X chromosome genes only affect boys, who have one X chromosome. Girls have a second copy of the gene that can compensate.

The results were published July 5 in the journal Human Molecular Genetics.

"Our data suggest that AFF2 could be one of the major X-linked risk factors for ASD's," says senior author Michael Zwick, PhD, assistant professor of human genetics at Emory University School of Medicine.

The finding bolsters a growing consensus among geneticists that rare variants in many different genes contribute significantly to risk for autism spectrum disorders. The mutations in the AFF2 gene probably do not cause ASDs all by themselves, Zwick says.

"We do not think that the variants we have identified are monogenic causes of autism," he says. "Our data does support the idea that this is an autism susceptibility gene."

In some situations, mutations in a single gene are enough by themselves to lead to a neurodevelopmental disorder with autistic features, such as fragile X syndrome or tuberous sclerosis complex. But these types of mutations are thought to account for a small number of ASD cases.

Recent large-scale genetic studies of autism spectrum disorders have identified several "rare variants" that sharply increase ASD risk. Scientists believe rare variants could explain up to 15 or 20 percent of ASD cases. However, until now no single variant has been found in more than one percent of ASD cases.

Working with Zwick, postdoctoral fell
'/>"/>

Contact: Quinn Eastman
qeastma@emory.edu
404-727-7829
Emory University
Source:Eurekalert

Page: 1 2

Related biology news :

1. Interacting mutations promote diversity
2. Gene mutations cause massive brain asymmetry
3. BRG1 mutations confer resistance to hormones in lung cancer
4. Hunting for autisms chemical clues
5. Brain scans detect early signs of autism
6. Autism Speaks awards nearly $2.9 million to fund autism research
7. MindSpec develops Autism Quiz app
8. Fish show autism-like gene expression in water with psychoactive pharmaceuticals
9. New treatment for irritability in autism
10. MindSpec launches online Autism Reading Room
11. Common genetic variants identify autism risk in high risk siblings of children with ASD
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:3/20/2015)... Research and Markets ( http://www.researchandmarkets.com/research/rswjb4/hand_geometry ) has ... Strategic Business Report" report to their offering. ... US$ Thousands. The report provides separate comprehensive analytics for the ... , Europe , Asia-Pacific ... World. Annual estimates and forecasts are provided for ...
(Date:3/17/2015)... , March 17, 2015 MedNet ... specializing in clinical study management systems, is pleased ... attendance at ARENA,s Outsourcing in Clinical Trials Southeast ... event provides an excellent forum for MedNet to ... and affordable software-as-a-service (SaaS) eClinical technology platform. ...
(Date:3/12/2015)... , March 12, 2015 The mascots of ... Children,s Hospital, part of Wake Forest Baptist Medical Center. ... for the 2015 ACC Men,s Basketball Tournament. Young patients ... them and getting their autographs. Brenner Children,s ... It is the only children,s hospital in northwest ...
Breaking Biology News(10 mins):Hand Geometry - Global Strategic Business Report 2015: An Essential Security Component for both Government & Enterprise Sector 2Hand Geometry - Global Strategic Business Report 2015: An Essential Security Component for both Government & Enterprise Sector 3Hand Geometry - Global Strategic Business Report 2015: An Essential Security Component for both Government & Enterprise Sector 4Connect With MedNet Solutions At Outsourcing In Clinical Trials Southeast 2
... A joint study published in Cell by ... for Research in Biomedicine (IRB Barcelona) and the Institute ... Dolf Weijers at the University of Wageningen, in the ... called auxins activate multiple vital plant functions through various ...
... This news release is available in German . ... the death of thousands of neurons in the brain. Nerve growth ... of the neurons; however, clinical tests with GDNF have not yielded ... Neurobiology in Martinsried and their colleagues have now succeeded in demonstrating ...
... of Vitamin A used by teenagers to combat acne might ... an international team of researchers have found that it may ... with autoimmune disorders or those who have received transplants. This ... Journal of Leukocyte Biology . "The ...
Cached Biology News:Scientists unveil a molecular mechanism that controls plant growth and development 2Parkinson gene: Nerve growth factor halts mitochondrial degeneration 2Parkinson gene: Nerve growth factor halts mitochondrial degeneration 3Vitamin A used in acne medicines may help autoimmune and transplant patients 2
(Date:3/27/2015)... , 27. März 2015  Peter ... in Biomedical Science für seine bahnbrechende Arbeit ... zwischen Zellkompartimenten transportiert werden, sowie für die ... zur Reaktion auf Stress nutzen, der mit ... Walter ist Professor für Biochemie an der ...
(Date:3/27/2015)... 27, 2015  Peter Walter was chosen as winner ... pioneering work on how proteins are transported between cellular ... mechanism that cells use to handle stress tied to ... professor of biochemistry at the University of California, San ... range of human diseases related to defective protein folding ...
(Date:3/27/2015)...  CASI Pharmaceuticals, Inc. (Nasdaq: CASI ), a ... of innovative therapeutics addressing cancer and other unmet medical ... on China , today reported financial ... 31, 2014.  The Company reported a ... for the three months ended December 31, 2014.  This ...
(Date:3/26/2015)... (PRWEB) March 26, 2015 PRC Clinical, ... announced today several management and executive appointments effective immediately. ... Financial Officer (CFO) and member of the Board of ... Business Operations, and Sue Dowden will assume the position ... and current Chief Operations Officer (COO), has been appointed ...
Breaking Biology Technology:Deutschstämmiger Zellbiologe Peter Walter gewinnt den Vilcek Prize in Biomedical Science 2015 2Deutschstämmiger Zellbiologe Peter Walter gewinnt den Vilcek Prize in Biomedical Science 2015 3Deutschstämmiger Zellbiologe Peter Walter gewinnt den Vilcek Prize in Biomedical Science 2015 4German-born cell biologist Peter Walter wins the 2015 Vilcek Prize in Biomedical Science 2German-born cell biologist Peter Walter wins the 2015 Vilcek Prize in Biomedical Science 3CASI Pharmaceuticals Reports 2014 Fourth Quarter And Full Year Financial Results 2CASI Pharmaceuticals Reports 2014 Fourth Quarter And Full Year Financial Results 3CASI Pharmaceuticals Reports 2014 Fourth Quarter And Full Year Financial Results 4CASI Pharmaceuticals Reports 2014 Fourth Quarter And Full Year Financial Results 5CASI Pharmaceuticals Reports 2014 Fourth Quarter And Full Year Financial Results 6PRC Clinical Announces Key Management Appointments and Launches East Coast Operations 2PRC Clinical Announces Key Management Appointments and Launches East Coast Operations 3
... ... and cytokine-related research tips and information. , ... Piscataway, NJ (PRWEB) May 20, 2010 -- ... the world’s leading interferon expert for life science researchers, has launched a revamped ...
... , CAMBRIDGE, Mass. , May 19 Idenix Pharmaceuticals, Inc. (Nasdaq: ... the 2010 Citi Annual Global Health Care Conference on Wednesday, May 26, 2010 ... New York City and at the Jefferies 2010 Global Life Sciences Conference on ... Hyatt hotel, New York City . , ...
... May 19, 2010 Amsterdam Molecular,Therapeutics (EuroNext Amsterdam: AMT), ... non-audited business update in compliance with,the EU transparency directive. This report ... 2010. , , Q1 2010 Highlights, ... - Dossier validated by EMA on January 20, 2010, ...
Cached Biology Technology:Web Resource for Interferon Research 2Idenix Pharmaceuticals to Present at Two Upcoming Investor Conferences 2AMT Provides Business Update for the First Quarter 2010 2AMT Provides Business Update for the First Quarter 2010 3
...
... The new IKATUBE ULTRA TURRAX Tube Disperser ... closed homogenizing system. It offers a cleaner, safer, ... IKATUBE system processes sample volumes from 2 to ... sample type, researchers can choose one of 4 ...
...
... Triple-angle light scattering detector for ... digital signal processing hardware for two ... UV detectors. Also contains an analog ... interfacing to strip chart recorders. Includes ...
Biology Products: