(SACRAMENTO, Calif.) Writing in this week's Journal of the American Medical Association, UC Davis M.I.N.D. Institute researchers urge physicians to test for mutations of the fragile X gene in patients of all ages. That's because, after decades of research, it is clear that mutations in this gene cause a range of diseases, including neurodevelopmental delays and autism in children, infertility in women and neurodegenerative disease in older adults.
"We want to notify specialists in a variety of areas, as well as allied health professionals, of the potential impact of the fragile X mutation at different times in patients' lives," said Randi Hagerman, director of the Fragile X Research and Treatment Center at the UC Davis M.I.N.D. Institute.
Hagerman, who is also the institute's medical director, co-authored the commentary with fellow M.I.N.D. Institute researcher and husband, Paul Hagerman, who is also director of the UC Davis NeuroTherapeutics Research Institute (NTRI).
Without testing for fragile X mutations, the Hagermans write, patients can be misdiagnosed.
"These patients don't have the advantage of targeted treatments and specific therapies," Randi Hagerman said.
The families of these patients are also at risk because the mutations are passed on from generation to generation.
"The patients don't realize that a genetic mutation is causing all of these seemingly unrelated diseases in their families," she said.
Research by the Hagermans and others has shown that mutations of the fragile X gene can cause, among other disorders, autism and ADHD in children, anxiety disorders at all ages, early menopause in women and dementia in the elderly.
Because the potential impact is so great, M.I.N.D. Institute researchers have created an inexpensive spot blood test for newborn screening that is currently in clinical trials.
Until testing for fragile X is widespread, the Hagermans ur
|Contact: Phyllis Brown|
University of California - Davis - Health System