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:4/11/2017)... 2017 Research and Markets has announced the ... to their offering. ... eye tracking market to grow at a CAGR of 30.37% during ... Market 2017-2021, has been prepared based on an in-depth market analysis ... and its growth prospects over the coming years. The report also ...
(Date:4/11/2017)... NXT-ID, Inc. (NASDAQ:   NXTD ) ... appointment of independent Directors Mr. Robin D. Richards ... Directors, furthering the company,s corporate governance and expertise. ... Gino Pereira , Chief Executive ... their guidance and benefiting from their considerable expertise as we ...
(Date:4/5/2017)... SEATTLE , April 5, 2017  The Allen ... the Allen Cell Explorer: a one-of-a-kind portal and dynamic ... large-scale 3D imaging data, the first application of deep ... edited human stem cell lines and a growing suite ... the platform for these and future publicly available resources ...
Breaking Biology News(10 mins):
(Date:10/10/2017)... ... October 10, 2017 , ... San Diego-based team building ... corporate rebranding initiative announced today. The bold new look is part of a ... company moves into a significant growth period. , It will also expand its service ...
(Date:10/10/2017)... , Oct. 10, 2017 International research firm Parks ... Strategy, will speak at the TMA 2017 Annual Meeting , October ... trends in the residential home security market and how smart safety and ... Parks ... "The residential ...
(Date:10/9/2017)... , Oct. 9, 2017  BioTech Holdings announced ... by which its ProCell stem cell therapy prevents ... ischemia.  The Company, demonstrated that treatment with ProCell ... limbs saved as compared to standard bone marrow ... HGF resulted in reduction of therapeutic effect.  ...
(Date:10/9/2017)... ... October 09, 2017 , ... ... in the medical journal, Epilepsia, Brain Sentinel’s SPEAC® System which uses the ... in detecting generalized tonic-clonic seizures (GTCS) using surface electromyography (sEMG). The prospective ...
Breaking Biology Technology:
Cached News: