Navigation Links
Severe mental retardation gene mutation identified

Researchers have identified a novel gene mutation that causes X-linked mental retardation for which there was no previously known molecular diagnosis, according to an article to be published electronically on Tuesday, March 20, 2007 in The American Journal of Human Genetics.

Investigators F. Lucy Raymond (Cambridge Institute of Medical Research, University of Cambridge, Cambridge, UK) and Patrick S. Tarpey (Wellcome Trust Sanger Institute, Hixton, UK) describe the ZDHHC9 gene found in those with severe retardation as being mutated to the point of entirely losing function.

"ZDHHC9 is a novel gene," explains Dr. Raymond. "This gene would not have been predicted to play a role in mental retardation based on the previous genetics work. It was found only because we were systematically looking at all the genes on the X chromosome irrespective of what they do."

X-linked mental retardation is severe. Some patients require total care and may not have language ability. The condition runs in families and only affects the male offspring. So far only a few of these genes have been identified.

Working through a large, international collaboration, the researchers collected genetic samples from 250 families in which at least two boys have mental retardation to help identify novel genes that cause X-linked mental retardation. The investigators systematically analyzed the X chromosome for gene mutations.

Dr. Raymond says that the families are receiving information from the study and using it to make decisions in their lives. "We cannot currently make their children better, but knowing that we found a genetic abnormality gives them an explanation for what has happened," she explains. "We had one family that said this knowledge was the best news they had ever been given."

"We have identified the cause of problems in certain families and are able to tell whether or not women are carriers of the condition," Dr. Raymond c
'"/>

Source:University of Chicago Press Journals


Page: 1 2

Related biology news :

1. Rush Physicians Using Gene Therapy For Heart Patients With Moderate To Severe Chest Pains Who Do Not Benefit From Other Treatments
2. Fundamental Finding Yields Insight into Stem Cells, Cancer; Opens Door to Drug Discovery
3. NIAID Initiates Trial of Experimental Avian Flu Vaccine
4. Study reveals new technique for fingerprinting environmental samples
5. Compounds in plastic packaging act as environmental estrogens altering breast genes
6. Protein prevents detrimental immune effects of bacterial sepsis
7. Gene keeps neural cells on correct developmental path
8. UN environmental agency steps up battle against marine pollution
9. Agilent Technologies introduces advanced zebrafish, mouse microarrays for stem cell and developmental biology research
10. Grass makes environmentally friendly biofuel
11. Stem cells grown in lab mirror normal developmental steps
Post Your Comments:
*Name:
*Comment:
*Email:
TAG: Severe mental retardation gene mutation identified

(Date:8/17/2015)... , Aug. 17, 2015  NXT-ID, Inc. (NASDAQ: ... authentication company focused on the growing mobile commerce market ... new sales campaign for Q4 2015. The new marketing ... team consisting of Amplitude Marketing Group ( http://amplitudemarketing.com/ ) ... Group is a leader in retail driven marketing and ...
(Date:8/12/2015)... 12, 2015  Synaptics Inc. (NASDAQ: SYNA ... today announced that four of its fingerprint ID ... officially been named FIDO Certified™ by the Fast ... certification, Synaptics, Natural ID™ fingerprint solutions are fully ... (UAF) standard and are interoperable among other products ...
(Date:8/6/2015)... Aug. 6, 2015  Today, U.S. Congressman ... Crossmatch ™ to learn firsthand how Silicon Valley ... Crossmatch is a world leader in multi-factor identity ... are helping federal agencies and commercial organizations achieve ... "The vast majority of network breaches ...
Breaking Biology News(10 mins):NXT-ID, Inc. Launches Sales Campaign for Wocket Smart Wallet with Award Winning Marketing Team 2NXT-ID, Inc. Launches Sales Campaign for Wocket Smart Wallet with Award Winning Marketing Team 3Synaptics Announces FIDO Certification of Natural ID Fingerprint Solutions 2Synaptics Announces FIDO Certification of Natural ID Fingerprint Solutions 3Rep. Honda to Visit Crossmatch in Redwood City 2
... when the Food and Drug Administration is reconsidering the ... study offers further evidence to support a University of ... treatment may be in order. Richard ... Houston College of Pharmacy (UHCOP), has been investigating whether ...
... Ill. -- Most people know that too much sodium from ... that people trying to lower their blood pressure should also ... to sodium. Researchers found that the ratio of sodium-to-potassium ... disease than sodium or potassium alone. "There isn,t ...
... the first clinical evidence that gene therapy reduces symptoms ... this promising treatment which has endured a sometimes turbulent ... Human Gene Therapy the findings stem from ... conducted in Germany and led by an investigator at ...
Cached Biology News:New asthma research opposes current drug treatment, says UH prof 2New asthma research opposes current drug treatment, says UH prof 3New asthma research opposes current drug treatment, says UH prof 4Cutting salt isn't the only way to reduce blood pressure 2Gene therapy demonstrates benefit in patients with rheumatoid arthritis 2Gene therapy demonstrates benefit in patients with rheumatoid arthritis 3
(Date:8/31/2015)... ... August 31, 2015 , ... The Global Supply Chain ... management and resiliency practitioners with luminaries and thought leaders to advance the professional ... for their innovations and performance excellence. At that time its principle sponsor, ...
(Date:8/31/2015)... Research and Markets ( http://www.researchandmarkets.com/research/v7fdpx/argentina ) has ... Market - Growth, Trends & Forecasts (2014-2020)" report ... Sensors market is estimated at $0.17 billion by 2018 ... The near future will bring Biomedical sensors ... individual. These sensors can be set to trigger alerts ...
(Date:8/31/2015)... , Aug. 31, 2015  For people with ... brighten their day. The biotechnology company, located in the ... one of the best potential therapies yet for people ... entitled, " Correction of Down syndrome and Edwards syndrome ... journal DNA Research . Elixirgen plans to develop ...
(Date:8/31/2015)... Calif. and SHANGHAI ... a privately-held biopharmaceutical company developing next-generation antibiotics, today ... 2 clinical study for its lead drug candidate ... to treat drug-resistant bacteria such as MRSA and ... and better tolerated therapeutic option than currently available ...
Breaking Biology Technology:Global Supply Chain Resiliency Council Announces Incorporation and Web Site Launch 2Global Supply Chain Resiliency Council Announces Incorporation and Web Site Launch 3Argentina Biomedical Sensors Market Report 2015 - Growth, Trends & Forecasts 2014-2020 2New Down syndrome therapy discovered 2MicuRX Reports Positive Top-Line Results In Phase 2 Clinical Trial For Novel Antibiotic MRX-I In Complicated Skin And Soft Tissue Infections 2
... The state will give $250,000 in tax credits to C3 ... an 18,000-square-foot facility in Appleton's Northeast Business Park. , ,According ... create 28 jobs in the area. The credits are part ... aside $5 million in tax credits for each of eight ...
... up with UW-Eau Claire, UW-Stout and several other tech ... in the state. , ,Nanotechnology deals with particles one ... physical properties of matter begin to give way to ... understand. The potential of arranging nanoparticles, which scientists long ...
... the University of Wisconsin-Madison are taking another look at some ... That's what scientists call the way sounds change as you ... example, a jackhammer or a siren will sound higher pitched ... ,But there's an inverse Doppler effect, too, predicted ...
Cached Biology Technology:Chippewa Valley Technical College helps pioneer nanotech program, incubator 2Chippewa Valley Technical College helps pioneer nanotech program, incubator 3Chippewa Valley Technical College helps pioneer nanotech program, incubator 4
HiTrap NHS-activated HP, 1 x 5 ml. Category: Chromatography Systems & Accessories, Systems....
Human OSCAR MAb (Clone 259501)...
Human/Mouse G9a/EHMT2 MAb (Clone A8620A) Keywords: Eu-HMTase2...
Human M-CSF...
Biology Products: