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New neurodevelopmental syndrome identified

April 21, 2016

NEW YORK, NY (April 21, 2016)--A multicenter research team led by Columbia University Medical Center (CUMC) has discovered a new neurodevelopmental syndrome and the genetic mutations that cause it. The discovery is an important step toward creating targeted therapies for individuals with this syndrome, which causes severe developmental delays, abnormal muscle tone, seizures, and eye complications.

The study was published online today in the American Journal of Human Genetics.

"Now that we've determined that a small subset of patients with neurodevelopmental disabilities share the same mutations, we can begin to learn about the prognosis of these individuals, how these mutations lead to this syndrome, and how to develop targeted therapies," said study leader David B. Goldstein, PhD, the John E. Borne Professor of Medical and Surgical Research (in Genetics and Development) and director of the Institute for Genomic Medicine at CUMC.

The discovery was made by performing whole-exome sequencing of patients with an undiagnosed neurodevelopmental disorder to identify excess spontaneous, or non-inherited, mutations. (The exome is the portion of the genome that encodes for the production of proteins.)

"Of the hundreds of patients we sequenced at CUMC, three were found to have mutations in a gene called GNB1," said Slave Petrovski, PhD, former research scientist with the Institute for Genomic Medicine at CUMC and the first author of the report. "We then reached out to our colleagues at other medical centers to see if they found similar mutations in any of the patients whose DNA they had sequenced. In all, we reviewed sequencing data on 5,855 individuals and found a total of 13 individuals with GNB1 mutations."

GNB1 mutations have been detected in some cancers, but this is the first time the mutations have been linked to a neurodevelopmental disorder. GNB1 encodes a protein that functions in the transmission of many different kinds of signals within cells.

"As of yet, we don't know which aspect of that signaling is affected by these mutations," said Dr. Goldstein. "Moving forward, we hope to determine exactly how these mutations cause disease and then use that information to identify druggable targets--completing the entire precision medicine circle for this condition, from gene discovery to functional biology to the development of targeted therapeutics."

Whole-exome sequencing is currently not a standard part of the evaluation of patients with neurodevelopmental disorders. "With more discoveries like this one, this genetic approach to disease diagnosis will become standard practice for all patients with these disabilities," said Dr. Goldstein.
The study is titled, "Germline de novo mutations in GNB1 cause severe neurodevelopmental disability, hypotonia and seizures." The other contributors are: Slavé Petrovski (CUMC and University of Melbourne, Melbourne, Victoria, Australia), Sébastien Küry (CHU Nantes, Service de Génétique Médicale, Nantes, France), Candace T. Myers (University of Washington, Seattle WA), Kwame Anyane-Yeboa (CUMC), Benjamin Cogné (CHU Nantes), Martin Bialer (North Shore LIJ, Manhasset, NY), Fan Xia (Baylor College of Medicine, Houston, TX), Parisa Hemati (CUMC), James Riviello (CUMC), Michele Mehaffey (University of Washington), Thomas Besnard (CHU Nantes), Emily Becraft (Stanford University School of Medicine, Stanford, CA), Alexandrea Wadley (University of Oklahoma, Oklahoma City, Oklahoma), Anya Revah Politi (CUMC), Sophie Colombo (CUMC), Xiaolin Zhu (CUMC), Zhong Ren (CUMC), Ian Andrews (University of New South Wales, Kensington, New South Wales, Australia), Tracy Dudding-Byth (Genetics of Learning Disability Service, Hunter Genetics, Waratah, and University of Newcastle, New South Wales, Australia), Amy L. Schneider (University of Melbourne, Heidelberg, Victoria, Australia), Geoffrey Wallace (Royal Children's Hospital, Herston School of Medicine, University of Queensland, Brisbane, Australia), Aaron B.I. Rosen (University of Washington), Susan Schelley (Stanford University School of Medicine), Gregory M. Enns (Stanford University School of Medicine), Pierre Corre (CHU Nantes), Joline Dalton (University of Minnesota, Minneapolis, MN), Sandra Mercier (CHU Nantes), Xénia Latypova (CHU Nantes), Sébastien Schmitt (CHU Nantes), Edwin Guzman (CUMC), Christine Moore (North Shore LIJ), Louise Bier (CUMC), Erin L. Heinzen (CUMC), Peter Karachunski (University of Minnesota), Natasha Shur (Albany Medical Center, Albany, NY), Theresa Grebe (University of Arizona College of Medicine, Phoenix, AZ), Alice Basinger (Cook Children's Physician Network, Fort Worth, TX), Joanne M. Nguyen (University of Texas Health Science Center at Houston, Houston, TX), Stéphane Bézieau (CHU Nantes), Klaas Wierenga (University of Oklahoma), Jonathan A. Bernstein (Stanford University School of Medicine), Ingrid E. Scheffer (University of Melbourne), Jill A. Rosenfeld (Baylor College of Medicine), Heather C. Mefford (University of Washington), and Bertrand Isidor (Service de Génétique Médicale).

The study was supported by the Institute for Genomic Medicine as part of the Columbia Precision Medicine Initiative (CPMI) and NewYork-Presbyterian.

Dr. Goldstein has equity in companies related to epilepsy precision medicine. Dr. Petrovski has equity in a company related to epilepsy precision medicine.

Columbia University Medical Center provides international leadership in basic, preclinical, and clinical research; medical and health sciences education; and patient care. The medical center trains future leaders and includes the dedicated work of many physicians, scientists, public health professionals, dentists, and nurses at the College of Physicians and Surgeons, the Mailman School of Public Health, the College of Dental Medicine, the School of Nursing, the biomedical departments of the Graduate School of Arts and Sciences, and allied research centers and institutions. Columbia University Medical Center is home to the largest medical research enterprise in New York City and State and one of the largest faculty medical practices in the Northeast. For more information, visit or


NewYork-Presbyterian is one of the nation's most comprehensive healthcare delivery networks, focused on providing innovative and compassionate care to patients in the New York metropolitan area and throughout the globe. In collaboration with two renowned medical school partners, Weill Cornell Medicine and Columbia University College of Physicians & Surgeons, NewYork-Presbyterian is consistently recognized as a leader in medical education, groundbreaking research and clinical innovation.

NewYork-Presbyterian has four major divisions: NewYork-Presbyterian Hospital is ranked #1 in the New York metropolitan area by U.S. News and World Report and repeatedly named to the magazine's Honor Roll of best hospitals in the nation; NewYork-Presbyterian Regional Hospital Network is comprised of leading hospitals in and around New York and delivers high-quality care to patients throughout the region; NewYork-Presbyterian Physician Services connects medical experts with patients in their communities; and NewYork-Presbyterian Community and Population Health features the hospital's ambulatory care network sites and operations, community care initiatives and healthcare quality programs, including NewYork Quality Care, established by NewYork-Presbyterian, Weill Cornell and Columbia.

NewYork-Presbyterian is one of the largest healthcare providers in the U.S. Each year, nearly 29,000 NewYork-Presbyterian professionals deliver exceptional care to more than 2 million patients.

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