Navigation Links
Study Uncovers Mutation Responsible for Noonan Syndrome

Scientists have discovered that mutations in a gene known as SOS1 account for many cases of Noonan syndrome (NS), a common childhood genetic //disorder which occurs in one in 1,000-2,500 live births. NS is characterized by short stature, facial abnormalities, and learning disabilities, as well as heart problems and predisposition to leukemia.

Led by researchers at Harvard Medical School-Partners Healthcare Center for Genetics and Genomics (HPCGG) and Beth Israel Deaconess Medical Center (BIDMC), the findings are reported in the December issue of Nature Genetics, which appears on-line today.

'Noonan syndrome is the most common single gene cause of congenital heart disease,' explains co-senior author Benjamin Neel, MD, PhD, Director of the Division of Cancer Biology at BIDMC and professor of medicine at Harvard Medical School (HMS).

'Although previous work had identified mutations in the PTPN11 gene as the cause of Noonan syndrome in nearly 50 percent of cases [and mutations in an oncogene known as KRAS in a small subset of severe cases] the identity of the gene or genes responsible for fully half the cases had not been elucidated,' Neel said.

To identify candidate genes, a group led by HMS instructor Amy Roberts, MD, and director of HPCGG Raju Kucherlapati, PhD, conducted genetic analysis of over 100 children with Noonan syndrome. This large cohort of NS patients had neither PTPN11 nor KRAS mutations.

'From this group, we identified SOS1 mutations in approximately 20 percent of the cases,' explains Kucherlapati, the Paul C. Cabot professor of genetics at HMS. After modeling the positions of the mutations on crystal structures of SOS1, the scientists made recombinant versions of the mutants and expressed them in mammalian cells, where it was discovered that they promoted excessive activation of RAS and its downstream target, MAP kinase, the same pathway activated by PTPN11 mutations.

'These results are the first example of activating mutations in an exchange factor in human disease,' notes Neel, explaining that for families at risk for Noonan syndrome, the findings will aid in prenatal diagnosis and genetic counseling for the disorder.

'Furthermore,' Neel adds, 'because the other two genes that cause Noonan syndrome are also mutated in several types of leukemia and solid tumors, our findings may also expand our knowledge of cancer pathways.'


Related medicine news :

1. Tomato Sauce reduces Cancer Risk- Study
2. Study on obesity and heart failure
3. National Lung Study in the process
4. Study casts doubt on keyboard ills
5. Study reveals how stress can make you sick
6. Study reveals how stress can make you sick
7. Study supports vegetable diet
8. Study to look at early surgery to treat epilepsy
9. Its Never Too Late to Stop Smoking,Study Finds
10. New Technique to Study Infants Brain.
11. Groundbreaking Study Gives Hope For Patients With Kidney Cancer
Post Your Comments:

(Date:6/25/2016)... ... June 25, 2016 , ... Conventional wisdom preaches the benefits of ... of the latter, setting the bar too high can result in disappointment, perhaps even ... progress toward their goal. , Research from reveals that behind ...
(Date:6/24/2016)... ... , ... June 19, 2016 is World Sickle Cell Observance Day. In an ... of holistic treatments, Serenity Recovery Center of Marne, Michigan, has issued a ... Cell Disease (SCD) is a disorder of the red blood cells, which can cause ...
(Date:6/24/2016)... (PRWEB) , ... June 24, 2016 , ... Global law ... magazine’s 2016 Legal Elite. The attorneys chosen by their peers for this recognition are ... , Seven Greenberg Traurig Shareholders received special honors as members of this year’s Legal ...
(Date:6/24/2016)... ... ... BioMedics, Inc, makers of Topricin and MyPainAway Pain Relief Products, join The ‘Business for a ... an hour by 2020 and then adjusting it yearly to increase at the same rate ... assure the wage floor does not erode again, and make future increases more predictable. , ...
(Date:6/24/2016)... ... June 24, 2016 , ... The Haute ... Dr. Barry M. Weintraub as a prominent plastic surgeon and the network’s newest ... world, and the most handsome men, look naturally attractive. Plastic surgery should be ...
Breaking Medicine News(10 mins):
(Date:6/23/2016)... PARK RIDGE, Ill. and INDIANAPOLIS ... caliber of students receiving a Lilly Diabetes Tomorrow,s Leaders ... hands. The 2016 scholarship winners, announced today online at ... refused to let type 1 diabetes stand in the ... Lilly Diabetes has supported the Foundation,s scholarship program since ...
(Date:6/23/2016)... 23, 2016 Revolutionary technology includes ... Oticon , industry leaders in advanced audiology and hearing ... Oticon Opn ™, the world,s first internet connected hearing ... IoT devices.      (Photo: ... number of ,world firsts,: , TwinLink™ - ...
(Date:6/23/2016)... , June 23, 2016 The vast ... an outpatient dialysis facility.  Treatments are usually 3 times ... hours per visit, including travel time, equipment preparation and ... patient, but especially grueling for patients who are elderly ... a skilled nursing and rehabilitation centers for some duration ...
Breaking Medicine Technology: