This genetic discovery included the efforts of CURE grantee Minghsan Xue.
Researchers are closer to solving the puzzle of a complex neurological condition called 15q13.3 microdeletion syndrome. Individuals with this condition are missing a small piece of chromosome 15 that usually contains six genes, but which one of the genes is responsible for the clinical characteristics of patients has not been clear. In this study, a multidisciplinary team of researchers at Baylor College of Medicine and Texas Children’s Hospital has identified in a mouse model OTUD7A as the gene within the deleted region that accounts for many characteristics of the human condition. The researchers also discovered that mice deficient in the gene Otud7a have fewer dendritic spines, small protrusions involved in neuron communication, which might be related to the neurological deficits.
The report appears in the American Journal of Human Genetics.
“Identifying the gene within a deleted region of a chromosome that accounts for the clinical characteristics we see in patients is very important,” said senior author Dr. Christian Schaaf, assistant professor of molecular and human genetics at Baylor College of Medicine and the Joan and Stanford Alexander Endowed Chair for Neuropsychiatric Genetics at Texas Children’s Hospital. “If we want to get to the point where we can treat patients, we need to know which gene or genes to target. That is the big picture question behind this study.”