Navigation Links
Developmental problems: Some exist in the genes

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

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:
(Date:10/27/2015)... 27, 2015 In the present market scenario, ... for various industry verticals such as banking, healthcare, defense, ... growing demand for secure & simplified access control and ... as hacking of bank accounts, misuse of users, , ... as PC,s, laptops, and smartphones are expected to provide ...
(Date:10/26/2015)... LAS VEGAS , Oct. 26, 2015 ... an innovator in modern authentication and a founding member ... launch of its latest version of the Nok Nok™ ... to use standards-based authentication that supports existing and emerging ... Suite is ideal for organizations deploying customer-facing applications that ...
(Date:10/22/2015)... (NASDAQ: AWRE ), a leading supplier of biometrics software and ... 30, 2015.  --> --> ... decrease of 33% compared to $6.0 million in the same quarter ... $2.2 million, or $0.10 per diluted share, which compared to $2.6 ... year ago.  --> --> ...
Breaking Biology News(10 mins):
(Date:11/24/2015)... India , November 24, 2015 ... a new market research report "Oligonucleotide Synthesis Market by ... Application (PCR, Gene Synthesis, Diagnostic, DNA, RNAi), End-User (Research, ... 2020", published by MarketsandMarkets, the market is expected to ... Million in 2015, at a CAGR of 10.1% during ...
(Date:11/24/2015)... ALBANY, New York , November 24, 2015 /PRNewswire/ ... According to a recent market research report released by ... is projected to expand at a CAGR of 17.5% ... titled "Non-invasive Prenatal Testing Market - Global Industry Analysis, ... 2022", estimates the global non-invasive prenatal testing market to ...
(Date:11/24/2015)... ... November 24, 2015 , ... In harsh ... Insertion points for in-line sensors can represent a weak spot where leaking process ... series of retractable sensor housings , which are designed to tolerate extreme process ...
(Date:11/24/2015)... 2015 Capricor Therapeutics, Inc. (NASDAQ: ... discovery, development and commercialization of first-in-class therapeutics, today announced ... is scheduled to present at the 2015 Piper Jaffray ... EST, at The Lotte New York Palace Hotel in ... . --> . ...
Breaking Biology Technology: