Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Rett syndrome genetic variants now available for advance testing, diagnosis & research

07.02.2014
Report investigators in The Journal of Molecular Diagnostics

Despite the identification of gene mutations in methyl CpG binding protein 2 (MECP2) being linked to Rett syndrome (RS), research has been hindered by the lack of commercially available reference materials.

Through collaboration between the Centers for Disease Control and Prevention (CDC) and members of the clinical-laboratory and non-profit–research communities, 35 DNA samples containing many common RS genetic variants have now been characterized and made publicly available, eliminating a major stumbling-block for investigators and opening the possibility of earlier, more accurate diagnosis of Rett syndrome, reports The Journal of Molecular Diagnostics.

The study was conducted via the CDC Genetic Testing Reference Materials Coordination Program (GeT-RM), which aims to help the genetic testing community obtain appropriate and well-defined reference materials for inherited genetic disorders, including cancer and infectious diseases. Researchers selected eight cell lines from RS patients already available from the National Institute of General Medical Sciences' Coriell Cell Repository, which contained six of the most common mutations that cause RS, as well as one additional point mutation. In addition, DNA was obtained from 27 newly established cell lines derived from blood samples from Rett patients, which included a number of other MECP2 variants. Two of the samples were from males.

The samples were sent for DNA sequence and deletion/duplication analyses (using MLPA, semi-quantitative PCR, or array) to College of American Pathologist–accredited clinical genetic testing laboratories, and each sample was tested in between two to five laboratories. The investigators found that the results were concordant among laboratories and assay platforms.

"The panel of 35 publicly available genomic DNA samples developed and characterized as part of this study contains a wide variety of point mutations, deletions, and duplications in both male and female samples that can be used by clinical laboratories to ensure the quality of Rett syndrome testing," asserts Dr. Kalman.

Point mutations or deletions/insertions of the MECP2 gene, which regulates aspects of brain development as well as the expression of other genes, were discovered to be associated with most cases of RS in 1999. However, since there are still no FDA-approved assays for Rett syndrome, laboratories have developed their own tests but need reference materials to standardize their techniques, validate assays, and meet regulatory and accreditation requirements. Ideally, the reference materials should be well characterized and contain the variants most commonly seen in RS patients.

"The availability of a renewable source of characterized reference materials for Rett syndrome will help to ensure the accuracy of these genetic tests and facilitate research and test development," comments Lisa Kalman, PhD, of the Division of Laboratory Programs, Standards, and Services at the Centers for Disease Control and Prevention.

"Molecular diagnosis of Rett syndrome is performed by examination of patient DNA for MECP2 mutations using a variety of molecular diagnostic methods," explains Dr. Kalman. "Genetic testing can help to confirm or establish the diagnosis of RS, especially when patients are young and the phenotype may not be completely apparent. Testing may also be important for at-risk relatives, prenatal diagnosis, or evaluation of an embryo prior to implantation during in vitro fertilization."

Rett syndrome, a dominant X-linked neurodevelopmental disorder that primarily affects girls, occurs in one of every 10,000 to 15,000 live births. Girls with RS first appear to grow and develop normally, but between the ages of 1 and 4 years start to exhibit development delays, loss of purposeful use of the hands, slowed brain and head growth, and motor difficulties. In later stages, affected individuals may develop a spectrum of symptoms with varying severity, including muscle weakness, rigidity, spasticity, abnormal posturing, inability to speak, seizures, and repetitive hand movements such as wringing or washing.

Eileen Leahy | EurekAlert!
Further information:
http://www.elsevier.com

More articles from Health and Medicine:

nachricht Deep stimulation improves cognitive control by augmenting brain rhythms
04.04.2019 | Picower Institute at MIT

nachricht Black nanoparticles slow the growth of tumors
04.04.2019 | Technische Universität München

All articles from Health and Medicine >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: Explosion on Jupiter-sized star 10 times more powerful than ever seen on our sun

A stellar flare 10 times more powerful than anything seen on our sun has burst from an ultracool star almost the same size as Jupiter

  • Coolest and smallest star to produce a superflare found
  • Star is a tenth of the radius of our Sun
  • Researchers led by University of Warwick could only see...

Im Focus: Quantum simulation more stable than expected

A localization phenomenon boosts the accuracy of solving quantum many-body problems with quantum computers which are otherwise challenging for conventional computers. This brings such digital quantum simulation within reach on quantum devices available today.

Quantum computers promise to solve certain computational problems exponentially faster than any classical machine. “A particularly promising application is the...

Im Focus: Largest, fastest array of microscopic 'traffic cops' for optical communications

The technology could revolutionize how information travels through data centers and artificial intelligence networks

Engineers at the University of California, Berkeley have built a new photonic switch that can control the direction of light passing through optical fibers...

Im Focus: A long-distance relationship in femtoseconds

Physicists observe how electron-hole pairs drift apart at ultrafast speed, but still remain strongly bound.

Modern electronics relies on ultrafast charge motion on ever shorter length scales. Physicists from Regensburg and Gothenburg have now succeeded in resolving a...

Im Focus: Researchers 3D print metamaterials with novel optical properties

Engineers create novel optical devices, including a moth eye-inspired omnidirectional microwave antenna

A team of engineers at Tufts University has developed a series of 3D printed metamaterials with unique microwave or optical properties that go beyond what is...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

VideoLinks
Industry & Economy
Event News

Revered mathematicians and computer scientists converge with 200 young researchers in Heidelberg!

17.04.2019 | Event News

First dust conference in the Central Asian part of the earth’s dust belt

15.04.2019 | Event News

Fraunhofer FHR at the IEEE Radar Conference 2019 in Boston, USA

09.04.2019 | Event News

 
Latest News

New automated biological-sample analysis systems to accelerate disease detection

18.04.2019 | Life Sciences

Explosion on Jupiter-sized star 10 times more powerful than ever seen on our sun

18.04.2019 | Physics and Astronomy

New eDNA technology used to quickly assess coral reefs

18.04.2019 | Life Sciences

VideoLinks
Science & Research
Overview of more VideoLinks >>>