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:1/12/2017)... , January 12, 2017 A new report by Allied Market ... the global biometric technology market is expected to generate revenue of $10.72 billion by ... Continue Reading ... Allied Market Research Logo ...      (Logo: http://photos.prnewswire.com/prnh/20140911/647229) ...
(Date:1/6/2017)... 2017  SomaLogic announced today that it has ... by iCarbonX, the China -based ... Digital Health Ecosystem that can define each person,s ... biological, behavioral and psychological data, the Internet and ... SomaLogic will provide proteomics data and applications expertise ...
(Date:1/3/2017)... , Jan. 3, 2017 Onitor, provider ... introduction of Onitor Track, an innovative biometric data-driven program ... showcasing this month at the 2017 Consumer Electronics Show ... In the U.S., the World Health Organization ... than two-thirds of adults who are overweight or obese. ...
Breaking Biology News(10 mins):
(Date:1/18/2017)... According to a new market research report "In situ Hybridization Market by Technique ... Diagnostic Laboratories, Academic and Research Institutions) - Global Forecast to 2021" published by ... USD 557.1 Million in 2016, growing at a CAGR of 5.8%. ... ... MarketsandMarkets Logo ...
(Date:1/18/2017)... N.J. , Jan. 18, 2017   Parent ... the fight to end Duchenne muscular dystrophy (Duchenne) ... to the New Jersey Institute of Technology (NJIT) and ... exploration of robotic technology to assist people ... to incorporate NJIT,s technology – an embedded computer, software, ...
(Date:1/18/2017)... Whitehouse, NJ (PRWEB) , ... January 18, 2017 ... ... access to more and more E&L expertise. Within Albany Molecular Research, Inc. (AMRI), ... doubled in the past year and is planned for further growth in 2017. ...
(Date:1/18/2017)... York, NY (PRWEB) , ... January 18, 2017 , ... Researchers from a new ... (PSA) do not fall low enough after prostate cancer treatment, this indicates there is still ... man’s risk of mortality. , “ The PSA test has always been an indicator of ...
Breaking Biology Technology: