Navigation Links
Developmental problems: Some exist in the genes
Date:8/17/2010

Philadelphia, PA, 17 August 2010 - Everyone is special in their own unique way. From a genetic point of view, no two humans are genetically identical. This means that DNA for each individual contains variants that are more or less comm. on in the overall population.

Some gene variations are actually genetic deletions, where sections of DNA 'code' are missing entirely. These variants are likely to have important effects on gene function and, therefore, likely to contribute to diseases associated with that gene. But what happens when multiple genes are disrupted in a single family?

A large collaborative study led by scientists based in Oxford, Bologna and Utrecht sheds some light on this complicated situation by describing the genomic characterization of a family with two rare microdeletions, in CNTNAP5 and DOCK4. Multiple members of this family were diagnosed with autism, dyslexia, and/or learning or social difficulties.

The genetic analysis revealed that the CNTNAP5 deletion segregated with autism. In contrast, the DOCK4 deletion was present in multiple individuals without autism, but this gene microdeletion co-segregated with reading difficulties.

"This report provides further evidence linking CNTNAP genes with autism, one of the most promising gene families in autism research," commented Dr. John Krystal, Editor of Biological Psychiatry, where this research is published. "But it also highlights how complex the connection between genes and syndromes can be, supporting the importance of DOCK4 for brain development particularly in circuits involved in reading- but questioning its role in autism."

"This is another example of the emerging theme whereby multiple rare genomic variants within a single family might, in combination, lead to the variable phenotypes associated with autism spectrum disorders," said first author Dr. Alistair Pagnamenta.

Interestingly, CNTNAP5 is closely related to other genes that can influence susceptibility to autism, such as CNTNAP2, which was first identified in 2008. DOCK4 is thought to be involved in the growth and development of nerve cells in the brain. Together, these results may open up new lines of research to help understand mechanisms behind neurological disorders and brain development.

The authors have noted that additional studies, which are needed to confirm these associations, are already underway.


'/>"/>

Contact: Maureen Hunter
m.hunter@elsevier.com
215-239-3674
Elsevier
Source:Eurekalert

Related biology news :

1. Tufts wins NCRR grant for Collaborative Cluster in Genome Structure and Developmental Patterning
2. Chinese scientists discover marker indicating the developmental potential of stem cells
3. Developmental delay could stem from nicotinic receptor deletion
4. Genetic marker linked to problem behaviors in adults with developmental disabilities
5. Specific genetic cause of fetal alcohol-related developmental disorders found
6. Mouse model provides a new tool for investigators of human developmental disorder
7. Carnegies Donald Brown receives lifetime achievement award from Society for Developmental Biology
8. Digital zebrafish embryo provides the first complete developmental blueprint of a vertebrate
9. Does the existing standard of care supply energy sources to brain tumor cells?
10. Life on Mars: University of Leicester to detect clues for alien existence
11. Discovery that PARP protein exists in all breast tumors will help target chemo and predict response
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:1/31/2017)... CAMBRIDGE, Mass. , Jan. 31, 2017 /PRNewswire-USNewswire/ ... develop novel therapies for the treatment of bacterial ... generation set of antibacterial candidates from Pro Bono ... the increased prevalence of multi-drug resistant forms of ... by Cantab Anti Infectives Ltd, a PBB group ...
(Date:1/26/2017)... , Jan. 26, 2017  Acuity Market ... for Biometrics and Digital Identity".  Acuity characterizes 2017 ... identity when increased adoption reflects a new understanding ... "Biometrics and digital identity are often ... Maxine Most , Principal of Acuity Market ...
(Date:1/24/2017)... , Jan. 24, 2017  It sounds ... baby,s sock that monitors vital signs and alerts ... an infant,s oxygen saturation level drops. But pediatric ... alarm to parents, with no evidence of medical ... devices are marketed aggressively to parents of healthy ...
Breaking Biology News(10 mins):
(Date:2/23/2017)... ... February 23, 2017 , ... ... published evaluation of multiple immunoassay-based threat detection technologies by researchers from the ... CANARY® biosensor threat detection technology was found to have the best level ...
(Date:2/23/2017)... , Feb. 23, 2017  Capricor Therapeutics, Inc. (NASDAQ: CAPR), ... medical conditions, today announced that Linda Marbán, Ph.D, president and ... investor conferences: Cowen and Company 37th ... am ET Boston, MA ... 9:00 am PT (12:00 pm ET) Dana Point, ...
(Date:2/22/2017)...  Aratana Therapeutics, Inc. (NASDAQ: PETX), a pet therapeutics company ... products for companion animals, will host a live conference call ... discuss financial results from the fourth quarter and full year ... investors may access the audio webcast or use ... ...
(Date:2/22/2017)... Scientists propose in Nature blocking ... Gaucher and maybe other lysosomal storage diseases as a ... current therapies. An international research team led ... also included investigators from the University of Lübeck in ... 22. The study was conducted in mouse models of ...
Breaking Biology Technology: