When the senses get confused

Credit: Getty A gene linked to intellectural disability and epilepsy might also be playing havoc with some patients' senses, including sight and hearing, a new UdeM-led study suggests. The SYNGAP1 gene, recently recognized for its role in intellectual disability and epilepsy, may also affect the sensory system of patients with a genetic mutation linked to this gene. That's the surprising finding of a new study led by scientists at CHU Sainte-Justine and Université de Montréal published in Brain . "Our novel findings reveal that pathogenic mutations in the SYNGAP1 gene are associated with sensory processing disorders - the misinterpretation of information perceived by the senses - in both preclinical and clinical models," said first author Maria Isabel Carreño-Muñoz, a postdoctoral fellow in UdeM's Department of Neuroscience. "This discovery has helped us to identify robust, reproducible and translatable biomarkers in humans that have the potential to guide us in developing new therapies to benefit the patient," she said. Intellectual disability is the most common cognitive disorder in childhood, affecting one to three percent of the world's population. Among the many genes involved, SYNGAP1 is significant because of its prevalence and the wide range of co-morbidities associated with its mutation, including disturbances of sensory perception.