Newly-discovered syndrome causing intellectual disability identified

Written by Courtney Johnson

The findings of an international, multi-center study, published recently in the American Journal of Human Genetics, have provided evidence that a syndrome resulting from a mutation in the TBCK gene may cause intellectual disability (ID) in children. The study also points to a potential targeted therapy for the newly-discovered syndrome. “ID is a common diagnosis, but it includes many different diseases, with multiple genetic causes, and few targeted therapies,” remarked Elizabeth Bhoj from the Center for Applied Genomics (CAG) at The Children’s Hospital of Philadelphia (CHOP, PA, USA). “This study may represent an early step toward the types of precision...

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