Delineating Lifetime Multimorbidity Associated with 16p13.11 Duplication: A Literature Review, Meta-Analysis, and Case Study

The 16p13.11 duplication is a rare copy number variation (CNV) that may increase multimorbidity risk across the life span. Initial reports implicated the duplication in autism spectrum disorder, intellectual disability, and various congenital anomalies; however, it was also observed in phenotypically normal individuals suggesting incomplete penetrance or non-pathogenicity. We conducted a literature review and meta-analysis to delineate the lifetime multimorbidity associated with 16p13.11 duplication. Speech delays, developmental delays, intellectual disability, learning disability, and autistic symptoms were reported in more than 30% of cases. Musculoskeletal abnormalities and cardiovascular disorders were commonly reported. The study also includes a lifespan case report of a 71-year-old female with a history of behavioral disturbance and treatment-resistant schizophrenia, identified as being a 16p13.11 duplication carrier.

Progress in Neuro-Psychopharmacology and Biological Psychiatry