"Mutations In Autism Gene Trigger Milder Effects Than Doses Its Loss" - Bahar Gholipour
People with mutations in SHANK3 have intellectual disability and other features of Phelan-McDermid syndrome, the condition most closely associated with this gene. However, these individuals have milder traits than do those missing a chunk of DNA that includes the gene, according to a new study. “It’s clear that other genes in the region contribute to the phenotype, but, at the same time, losing only SHANK3 is enough to cause a pretty significant phenotype,” said lead researcher, Alexander Kolevzon, MD, professor of psychiatry and pediatrics at the Icahn School of Medicine at Mount Sinai, director of child and adolescent psychiatry for the Mount Sinai Health System, and clinical director of the Seaver Autism Center for Research and Treatment at Mount Sinai. “For this study, we grouped all mutations together. But where the mutation occurs in the gene could also have relevance,” said Dr. Kolevzon.
- Alexander Kolevzon, MD, Professor, Psychiatry, Pediatrics, Icahn School of Medicine at Mount Sinai, Director, Child and Adolescent Psychiatry, Mount Sinai Health System, Clinical Director, The Seaver Autism Center for Research and Treatment at Mount Sinai