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 importan t role in many species in controlling the integrity of chromosome pairs during cell division.

Recent research has unexpectedly showed that mutated genes along the cohesin pathway also cause specific abnormalities during human development. “In these cohesin complex proteins, the strongest effect seems to be in brain development,” said Dr. Krantz.

Drs. Krantz and Jackson together maintain the world’s largest database of patients with CdLS. The current study screened 115 patients who did not have mutations in the NIPBL gene, but who were judged to have CdLS or a milder variant of the disease, based on evaluations by clinical geneticists.

Of the 115 patients, 11 had mutations in the SMC1A or SMC3 gene. All had some degree of mental retardation, but none had limb abnormalities. Five of the 11 patients had normal height, whereas only 5 percent of patients with classic CdLS achieve normal height. The patients with the SMCIA and SMC3 mutations had milder versions of the distinctive facial features found in classical CdLS, such as thin eyebrows that join together, long eyelashes, thin lips and excessive body hair.

“In many of these patients, an experienced clinician might recognize their more subtle facial features as suggestive of CdLS, but for the most part, they would only come to clinical attention for having mild to moderate mental retardation,” said Matthew A. Deardorff, M.D., the first author of the study and a fellow in genetics at Children’s Hospital. “This study suggests there may be other, undiscovered mutations along the cohesin pathway among patients thought to have isolated mental retardation.”

“This discovery will improve the diagnosis of Cornelia deLange syndrome,” added Dr. Krantz, “and also opens an avenue for investigating genetic mechanisms in broader populations of patients with abnormal brain development, in mental retardation and possibly autism as well.”

Source-Nwswise
SRI
'"/>




Related medicine news :

1. Fluoride Found Effective in Osteoporosis
2. Implantable Contact Lens Found Safe and Effective
3. Cancer hazard Found With Animal-Based Nutrients
4. Processed Meat, Diabetes connection Found
5. Night Time Aspirin Regimen Found to Reduce Blood Pressure
6. Hydrotherapy Found to be Effective for Patients with Osteoarthritis
7. Hydrotherapy Found to be Effective for Patients with Osteoarthritis
8. Preventive Therapies Found to be More Effective in Managing Migraines
9. Common Cold Found to Fight Cancer
10. Circumcision Found To Prevent HIV Spread
11. Drug Found To Reduce The Transmission Of Herpes
Post Your Comments:
*Name:
*Comment:
*Email:


(Date:2/11/2016)... ... 11, 2016 , ... Atlantic Information Services, Inc. (AIS) is ... Case Study for Plans and Purchasers.” Executives from Intel Corp. and Providence Health ... value-based health benefits program Connected Care, will discuss the challenges they faced (and ...
(Date:2/11/2016)... Australia (PRWEB) , ... February 11, 2016 , ... ... potential ?" motivational speaker, trainer and author Ray Clarke poses a question as ... personal fulfillment . In his book, "Being in the Being" (published by Partridge ...
(Date:2/11/2016)... ... February 11, 2016 , ... Greenfield ... charity program created to assist the people of their local community. The agency ... organizations and community leaders. Their hope is to bring awareness to important local ...
(Date:2/11/2016)... ... 2016 , ... Talix today announced that Clive Fields, MD, ... at the 2016 HIMSS Annual Conference & Exhibition, taking place February 29 – ... Coding for Care: Using Data Analytics for Risk Adjustment ,” Dr. Fields will ...
(Date:2/11/2016)... , ... February 11, 2016 , ... The annual list ... on evaluation of DataPoint’s team dedication and commitment to the SharePoint ecosystem. ... the annual list. The panel’s goal is to recognize and promote technology entrepreneurship. ...
Breaking Medicine News(10 mins):
(Date:2/11/2016)... Transformational M&A achieved through NPS and Dyax acquisitions ... Transformational M&A achieved through NPS and Dyax acquisitions and the ... M&A achieved through NPS and Dyax acquisitions and the announced ... with most robust pipeline in Shire , s ... most robust pipeline in Shire , s history ...
(Date:2/11/2016)... CHICAGO, Ill. , Feb. 11, 2016 /PRNewswire/ ... of the AbbVie Rheumatology Scholarship, designed to provide ... rheumatologic disease as they pursue higher education goals. ... each for the 2016-2017 school year. The AbbVie ... Tracie Haas , vice president, corporate social ...
(Date:2/11/2016)... , Feb. 11, 2016 Exactus Pharmacy ... providing high-quality specialty pharmacy care for those suffering ... it has achieved full Specialty Pharmacy Accreditation from ... dedicated to promoting health care quality through accreditation, ... --> The URAC accreditation process demonstrates ...
Breaking Medicine Technology: