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:3/24/2015)... , March 24, 2015   Crossmatch ... solutions, today announced that its U.are.U ® ... retailer Goorin Bros . to achieve PCI ... solution secures access to the POS terminal, protecting ... risk of data breaches. With ...
(Date:3/23/2015)... YORK , March 23, 2015   HOYOS ... property management company, today announced that the Company will ... for both enterprise and consumers at Connect:ID on March ... HOYOS Labs will highlight the IEEE Biometric ... TM ; and enterprise access control system. BOPS ...
(Date:3/23/2015)... , Mar. 23, 2015 NXT-ID, Inc. (NASDAQ: NXTD ... on the growing mobile commerce market, announces its biometric payment ... campaign on CNBC television starting March 30 th . ... airing in New York markets. ... "We are excited about our new ad campaign following the ...
Breaking Biology News(10 mins):Crossmatch Fingerprint Readers Help Retailer Prevent Data Breaches at Point-of-Sale 2HOYOS Labs to Showcase Host of Biometrics Technologies at Connect:ID in Washington, D.C. 2HOYOS Labs to Showcase Host of Biometrics Technologies at Connect:ID in Washington, D.C. 3NXT-ID's Wocket Smart Wallet to Launch New CNBC Regional TV Ad Campaign 2NXT-ID's Wocket Smart Wallet to Launch New CNBC Regional TV Ad Campaign 3
... wildland fires and urban and agricultural areas in California ... according to a recent study published in the journal ... research ecologist from the U.S. Forest Service,s Pacific Southwest ... quality at Devils Postpile National Monument in the eastern ...
... Geosphere papers posted online 4 and 17 April ... CHIRP (compressed high-intensity radar pulse), and IODP (International Ocean ... nature of Earth. New locations studied: Sakhalin, in the ... and Andalshatten batholith, central Norway. Geosphere ,s online-only ...
... Springer,s journal Food and Environmental Virology is ... Food and Environmental Virology . The new affiliation ... Springer, was accepted in January 2013 by Medline, the ... Food and Environmental Virology publishes original articles, notes ...
Cached Biology News:Air pollution diminishing air quality at Devils Postpile National Monument 2Geosphere features top geoscience technology, including LiDAR, EarthScope, CHIRP, ALSM, and IODP 2Geosphere features top geoscience technology, including LiDAR, EarthScope, CHIRP, ALSM, and IODP 3Geosphere features top geoscience technology, including LiDAR, EarthScope, CHIRP, ALSM, and IODP 4Geosphere features top geoscience technology, including LiDAR, EarthScope, CHIRP, ALSM, and IODP 5Geosphere features top geoscience technology, including LiDAR, EarthScope, CHIRP, ALSM, and IODP 6Geosphere features top geoscience technology, including LiDAR, EarthScope, CHIRP, ALSM, and IODP 7Geosphere features top geoscience technology, including LiDAR, EarthScope, CHIRP, ALSM, and IODP 8Geosphere features top geoscience technology, including LiDAR, EarthScope, CHIRP, ALSM, and IODP 9Geosphere features top geoscience technology, including LiDAR, EarthScope, CHIRP, ALSM, and IODP 10Food and Environmental Virology adds society affiliation 2
(Date:3/27/2015)... Earlier this year, the Capillus272Pro™ ... regrowth in adult men and women with androgenic alopecia ... classifications of IIa-V and Fitzpatrick Classification of Skin phototypes ... that over-promise and under-deliver, FDA Clearance underscores the safety ... among more than 80 million men and women who ...
(Date:3/27/2015)... London, UK (PRWEB) March 27, 2015 ... on the back of the recession and high prices ... the market has recovered and keeps on gaining momentum ... of NPK stands at more than 100,000 thousand tonnes. ... post-crisis years. Meantime, the global capacity rocketed during 2012-2013, ...
(Date:3/27/2015)... , 27. März 2015  Peter ... in Biomedical Science für seine bahnbrechende Arbeit ... zwischen Zellkompartimenten transportiert werden, sowie für die ... zur Reaktion auf Stress nutzen, der mit ... Walter ist Professor für Biochemie an der ...
(Date:3/27/2015)... , March 27, 2015  Neogen Corporation (NASDAQ: ... adopted a prearranged trading plan in accordance with Securities ... Chairman and CEO of Neogen Corporation, is a minority ... Corporation common stock. Herbert does not have ... appropriate. The filing is only for a portion of ...
Breaking Biology Technology:Dr. Robert Leonard Applauds FDA Clearance of Capillus272Pro™ Hair Loss Laser Cap 2World NPK Fertilizers Market Keeps On Gaining Momentum, According to BAC Reports Study Available at MarketPublishers.com 2World NPK Fertilizers Market Keeps On Gaining Momentum, According to BAC Reports Study Available at MarketPublishers.com 3Deutschstämmiger Zellbiologe Peter Walter gewinnt den Vilcek Prize in Biomedical Science 2015 2Deutschstämmiger Zellbiologe Peter Walter gewinnt den Vilcek Prize in Biomedical Science 2015 3Deutschstämmiger Zellbiologe Peter Walter gewinnt den Vilcek Prize in Biomedical Science 2015 4Neogen CEO adopts 10b5-1 Trading Plan 2
... March 15, 2011 Biotechnology company ImmusanT, Inc. ... Cambridge, Massachusetts and is advancing its strategy to ... tool for celiac disease. The company completed the ... from Nexpep Pty., Ltd., based in Melbourne, Australia, ...
... Solutions, LLC, a manufacturer of measurement and control solutions ... of its new SmartBag product for rocker ...   Bioprocessing specialists will get a close-up ... solution that has been seamlessly integrated into a pillow ...
... is available in German . Tiny ... The individual magnets can twist either in a clockwise or ... states can be used in data processing just like switching ... contrast to conventional memory storage systems, these magnetic vortices can ...
Cached Biology Technology:Start-Up ImmusanT Seeks to Restore Tolerance to Gluten in Celiac Disease with Immunotherapy 2Start-Up ImmusanT Seeks to Restore Tolerance to Gluten in Celiac Disease with Immunotherapy 3Start-Up ImmusanT Seeks to Restore Tolerance to Gluten in Celiac Disease with Immunotherapy 4Finesse Solutions Showcases SmartBag with Fully Integrated Single-Use pH and pO2 Sensors for Rocker Bioreactors at Interphex 2011 2Mini disks for data storage 2
BD BioCoat Collagen IV 35 mm Culture Dishes, tissue-culture treated polystyrene with a uniform application of mouse collagen type IV....
... application for DNA and protein sequence ... makes complex computational analyses of sequence ... very latest computing technology to set ... are analysed. Features include: Sequence Annotation, ...
... Mouse Antibody to Human Cytokeratin TYPE ... Basic (Type II) keratins. Including epidermal cell ... at 58kD, 65kD and 67kD. Broad keratin ... oesophagus and cornea. Immunogen: ...
... CHEMICON XpressPack™ Colorimetric Detection System is intended ... amplified DNA generated by an in-house validated ... selected target of interest. • ... System is a hybridization capture assay designed ...
Biology Products: