HOME >> BIOLOGY >> NEWS
Severe mental retardation gene mutation identified

BETHESDA, Md. 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 cond
'"/>

Contact: Suzanne Wu
swu@press.uchicago.edu
773-834-0386
University of Chicago Press Journals
20-Mar-2007


Page: 1 2

Related biology news :

1. Common environmental chemicals in diet affect fetal ovarian development
2. Early environmental exposure may accelerate age-related neurodegeneration
3. MIT researchers reverse symptoms in mice of leading inherited cause of mental retardation
4. Innovative subsea separation technology wins 2007 EUREKA environmental award
5. Who needs environmental monitoring?
6. Crucial progress in understanding Fragile X mental retardation protein
7. Johns Hopkins Bloomberg School of Public Health, Geisinger launch new environmental research group
8. CSHL links activity in brain synapses and developmental abnormalities with schizophrenia gene
9. From ink to optics, study of particle mixtures yields fundamental insights
10. K-State to collaborate on research to forecast ecological consequences of environmental changes
11. Insulin therapy shown to treat early experimental diabetic retinopathy

Post Your Comments:
*Name:
*Comment:
*Email:
TAG: Severe mental retardation gene mutation identified

(Date:10/16/2014)... human body. Battles are won, lost or sometimes ... stalemate—known as tumor dormancy—can last up to 25 ... is poorly understood. , A new computational ... a Professor of Chemistry at Princeton University, may ... the switch to a malignant state. Published today ...
(Date:10/16/2014)... Washington land managers have a new synthesis of recent ... mixed-conifer (MMC) forests in the two states. , ... Eastern Oregon and Washington: A Synthesis of the Relevant ... general technical report published by the U.S. Forest Service,s ... a request from managers for a synthesis of the ...
(Date:10/16/2014)... can be cultivated efficiently, they are anything but ... by monoculture cultivation is becoming increasingly evident. Despite ... form and are regarded as the sole possibility ... quite wrongfully, finds Bernhard Schmid, an ecology professor ... novel form of agriculture and forestry. After all, ...
Breaking Biology News(10 mins):Modeling tumor dormancy 2New report synthesizes best available science on management of moist mixed-conifer forests 2Plant communities produce greater yield than monocultures 2Plant communities produce greater yield than monocultures 3
(Date:10/22/2014)... DUBLIN , Oct. 22, 2014 ... "Organic Electronics Market by Material, by Application, Geography ... report to their offering. Organic electronics, ... a branch of material science which deals with small ... as organic because small molecules and polymers are carbon ...
(Date:10/20/2014)... Oct. 20, 2014 Mapp Biopharmaceutical,s valiant ... antibody therapeutic to fight the Ebola outbreak will ... time-consuming the production of pharmaceuticals can be, according ... said that while some may be taken aback ... those with industry knowledge are well aware of ...
(Date:10/20/2014)... , Oct. 20, 2014 /PRNewswire/ - BIOREM Inc. (TSXV: BRM) ("Biorem" ... which brings Q3 orders to $5.8 million and provides a good ... in North America and one in the ... bid new projects at record levels," said Peter Bruijns , ... at the end of Q3 than they have been for any ...
(Date:10/20/2014)... , Oct. 20, 2014 PureTech , ... tackling big healthcare problems, announced today the closing ... with participation from Invesco Perpetual, a $120 Billion ... to drive PureTech,s existing pipeline forward and to ... has the scientific creativity to really go for ...
Breaking Biology Technology:Global Organic Electronics (Semiconductor, Conductive, Dielectric and Substrate) Market - Analysis and Forecast (2014 - 2020) 2Global Organic Electronics (Semiconductor, Conductive, Dielectric and Substrate) Market - Analysis and Forecast (2014 - 2020) 3Kalorama: ZMapp Highlights Need For Faster Biopharmaceutical Production 2Kalorama: ZMapp Highlights Need For Faster Biopharmaceutical Production 3PureTech Announces Expansion with Oversubscribed $55M Funding Round 2PureTech Announces Expansion with Oversubscribed $55M Funding Round 3PureTech Announces Expansion with Oversubscribed $55M Funding Round 4PureTech Announces Expansion with Oversubscribed $55M Funding Round 5PureTech Announces Expansion with Oversubscribed $55M Funding Round 6
Cached News: