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:


(Date:3/3/2016)... MONTEREY, Calif. , March 3, 2016  FlexTech, ... in the categories of Innovation, Research & Development, Leadership ... Industry Leadership. This is the 9 th year ... select group of companies and individuals from past ... nominations based on a pre-described set of criteria, by ...
(Date:3/2/2016)... March 2, 2016 ... addition of the  "Global Biometrics Market in ... ,     (Logo: http://photos.prnewswire.com/prnh/20130307/600769) , , Global biometrics ... at a CAGR of around 27%   ... has announced the addition of the  "Global ...
(Date:3/1/2016)... SAN FRANCISCO , March 1, 2016  (RSAC ... every year, but a whopping $118 billion is lost ... due to overzealous and inaccurate fraud detection. At the ... shift in the way companies handle authentication by devaluing ... biometric and behavioral analytics. --> ...
Breaking Biology News(10 mins):
(Date:5/4/2016)... ... 04, 2016 , ... The Children’s Tumor Foundation announced its annual month-long campaign ... on nerves throughout the body. It affects 1 in 3,000 people of all populations; ... the month of May, as well as online activities, Neurofibromatosis Awareness Month and “I ...
(Date:5/3/2016)... , May 3, 2016 ... Chip (Genomics, Drug Discovery, Gene Expression) Lab-on-a-chip ... user (Academics Institutes, Diagnostics Centers), Fabrication Technology ... by MarketsandMarkets, the market is expected to ... USD 7.63 Billion in 2015, growing at ...
(Date:5/3/2016)... ... May 03, 2016 , ... Flagship Biosciences, ... Nancy Gillett to its Board of Directors. Dr. Gillett recently retired from Charles ... Vice President and Chief Scientific Officer. A board-certified veterinary pathologist, Dr. Gillett joined ...
(Date:5/3/2016)... WOODLANDS, Texas , May 3, 2016  Dr. ... certified plastic surgeon in The Woodlands, Texas ... that destroys 24 percent of treated fat cells in ... and woman. Close to 90 percent of Americans report ... treatment options. Nonsurgical fat reduction procedures are a growing ...
Breaking Biology Technology:
Cached News: