Navigation Links
Gene found for rare disorder may reveal new pathway in mental retardation

Studying mutations that give rise to a rare genetic disease, genetics researchers have identified a novel biological pathway that may have a broader role during human development, potentially in cases of mental retardation and autism.

An international team of researchers identified two genes that contribute to Cornelia deLange syndrome (CdLS), a multisystem genetic disease that affects an estimated one in 10,000 children. The disease varies from milder to more severe forms, but classically includes mental retardation, impaired growth, heart defects, feeding problems, deformed upper limbs and distinctive facial features.

In the current study, mutations in two genes of interest cause mental retardation, but with less pronounced facial features and none of the limb defects, such as missing hands or fingers, that are hallmarks of classical cases of CdLS. The genes play important roles in early development, and when mutated, cause brain abnormalities.

"Our work suggests that a subset of patients with mental retardation may have mutations in these genes, without showing the broader range of symptoms identified in diseases such as Cornelia deLange syndrome," said study leader Ian D. Krantz, M.D., a specialist in pediatric genetics at The Children's Hospital of Philadelphia. Dr. Krantz and his co-author, Laird S. Jackson, M.D., of Drexel University College of Medicine, led the study team that announced the discovery of NIPBL, the first gene known to cause CdLS, in 2004.

The current study appeared online Jan. 17 in the American Journal of Human Genetics, in advance of print publication in March 2007.

In contrast to the NIPBL gene, in which mutations cause roughly half of known CdLS cases, the researchers found that mutations in the new genes, SMC3 and SMC1A, cause only about 5 percent of CdLS cases. All three genes produce proteins called cohesin proteins. Cohesin proteins have long been known to play an important role in many
'"/>

Source:Children's Hospital of Philadelphia


Page: 1 2

Related biology news :

1. New component of the brakes on nerve regeneration found
2. Strongest proof yet found for prion hypothesis
3. A puzzle piece found in unraveling the wiring of the brain
4. New World founders small in number
5. Norovirus found to cause travelers diarrhea
6. Pair of cancer genes found to drive both cell migration and division
7. Alien woodwasp, threat to US pine trees, found in N.Y.
8. Achilles heel of the herpes virus possibly found
9. Purdue scientists may have found key to halting spinal cord damage
10. Unexpected lock and key mechanism found for the assembly of tumor blood vessels
11. New protein vital for immune response is found in surprise location
Post Your Comments:
*Name:
*Comment:
*Email:
TAG: Gene found for rare disorder may reveal new pathway mental retardation

(Date:6/15/2015)... , June 16, 2015 ... Processing Market by Type (Rule-Based, Statistical, and Hybrid), Technologies ... Forecast to 2020" published by MarketsandMarkets, The Natural Language ... at a CAGR of 18.4% for the forecast period ... and   46 F igures spread   through ...
(Date:6/12/2015)... , June 12, 2015  Securus Technologies, a ... solutions for public safety, investigation, corrections and monitoring, ... patent to electronically capture, analyze and identify participants ... recognition methods. This system can: ... an enrollment and subsequent sign-on process is actually ...
(Date:6/9/2015)... , June 9, 2015   MedNet Solutions ... the entire spectrum of clinical research, will be providing ... technology platform at the 2015 Drug Information Association (DIA) ... on June 15-17.  These presentations will include previews of ... out in the upcoming iMedNet 2015 Feature ...
Breaking Biology News(10 mins):Natural Language Processing Market Worth $13.4 Billion by 2020 2Natural Language Processing Market Worth $13.4 Billion by 2020 3Natural Language Processing Market Worth $13.4 Billion by 2020 4Natural Language Processing Market Worth $13.4 Billion by 2020 5Securus Announces Patent Issued for Authorized Presence Verification During Video Visitation 2MedNet To Provide Sneak Peeks Of Its iMedNet "2015 Feature 1 Release" At The DIA Annual Meeting 2MedNet To Provide Sneak Peeks Of Its iMedNet "2015 Feature 1 Release" At The DIA Annual Meeting 3
... to populate parts of the world to which they are ... Now, an international team of scientists has studied the impact ... Despite the rat,s environmental impact, only the tiny European storm ... with the rat. A European team has studied around ...
... have genetically mapped the sex chromosomes of several species ... identified a mechanism by which new sex chromosomes may ... of the journal Science , biologists Thomas Kocher, ... Maryland describe the genetic basis for two co-existing systems ...
... mapped the sex chromosomes of several species of cichlid ... identified a mechanism by which new sex chromosomes may ... (October 1, 2009), Professor Thomas D. Kocher, Department ... Roberts, post-doctoral associate; and Jennifer Ser, research associate, describe ...
Cached Biology News:Black rat does not bother Mediterranean seabirds 2East African cichlid fish offer new understanding of genetic basis of sex determination 2Genetic conflict in fish led to evolution of new sex chromosomes 2
(Date:7/2/2015)... , ... July 02, 2015 , ... Sleepless nights will ... individual’s quality of sleep, launched its Indiegogo campaign on June 23. Sound sleepers and ... command technology makes it effortless to use, while the integration of the Bluetooth speaker, ...
(Date:7/1/2015)... ... July 01, 2015 , ... It is now possible to separate two ... photon emission computed tomography (SPECT) according to researchers from Amen Clinics, UCLA, Thomas ... brain scans and is believed to be the largest brain imaging study ever, will ...
(Date:7/1/2015)... 2015   Decision Resources Group finds ... Otezla are its oral administration, alternative mechanism of ... surveyed rheumatologists. Otezla was the first oral therapy ... active psoriatic arthritis in the United ... includes conventional oral treatments including disease-modifying antirheumatic drugs ...
(Date:7/1/2015)... and BANGALORE, India , July 1, ... company that uses next generation sequencing technology to empower ... A. Storrer as chief executive officer. In his ... be responsible for all strategy, business expansion and worldwide ... has served as Strand,s chairman and CEO since its ...
Breaking Biology Technology:Luzi Smart Lamp Recently Launched Indiegogo Campaign 2Luzi Smart Lamp Recently Launched Indiegogo Campaign 3Brain Scans Can Tell Post-Traumatic Stress Disorder and Traumatic Brain Injury Apart According to New Research by Amen Clinics 2Brain Scans Can Tell Post-Traumatic Stress Disorder and Traumatic Brain Injury Apart According to New Research by Amen Clinics 3Brain Scans Can Tell Post-Traumatic Stress Disorder and Traumatic Brain Injury Apart According to New Research by Amen Clinics 4Surveyed Rheumatologists Report That Otezla's Oral Administration is its Single Greatest Advantage Over Currently Available Treatment Options 2Surveyed Rheumatologists Report That Otezla's Oral Administration is its Single Greatest Advantage Over Currently Available Treatment Options 3Strand Life Sciences Names Scott A. Storrer CEO as Company Continues Global Expansion with Focus on Precision Medicine Product 2Strand Life Sciences Names Scott A. Storrer CEO as Company Continues Global Expansion with Focus on Precision Medicine Product 3
... SemBioSys subsidiary to accelerate commercialization,of personal care ingredients with its proprietary oleosome-based technology ... ... ... Botaneco Specialty,Ingredients Inc. (,Botaneco,), a wholly-owned subsidiary of SemBioSys,Genetics Inc. (,SemBioSys,), today announced that ...
... SAN DIEGO, June 30 ADVENTRX Pharmaceuticals,Inc. (Amex: ... its dispute with,Theragenex, LLC and its Chairman and ... which payments the Company has received,in full. The ... the underlying,arbitration action and all related claims and ...
... New Halal Certified Aroma Raw Materials Added, ... focus area within SAFC(R), a member of the ... an additional 200 Halal certified,food-grade products to its ... This addition expands SAFC Supply Solution,s Halal,offering to ...
Cached Biology Technology:Botaneco announces $4,000,000 financing 2Botaneco announces $4,000,000 financing 3Botaneco announces $4,000,000 financing 4ADVENTRX Settles Dispute With Former Licensee 2SAFC Supply Solutions Expands Halal Offer in Flavors & Fragrances Product Line 2SAFC Supply Solutions Expands Halal Offer in Flavors & Fragrances Product Line 3
... The nature of proteomics demands the detection ... superior performance of the AXIMA-CFRplus with improved ... 5 ppm) provides increased confidence in protein ... for enhanced sensitivity, automated sample target handling ...
QCPN...
... the Axima range, the AXIMA-CFR provides ... resolution, sensitivity and mass range, and ... and reflectron time-of-flight analysis. The unique ... generation of seamless PSD, providing efficient ...
... MALDI O-TOF creates a new category for ... platform that has been licensed to the ... Manitoba. , As the first single MALDI-TOF ... collisional cooling, the prOTOF 2000 represents a ...
Biology Products: