Neurodevelopmental copy-number variants increase risk of internalizing and cardiometabolic multimorbidity: Findings from the UK Biobank

NDD-associated CNVs (UK Biobank, N=7,549 carriers), increased risk of internalizing + cardiometabolic multimorbidity

Using UK Biobank data (7,549 NDD-associated CNV carriers, 1.62% of cohort), this study shows that these CNVs significantly increase risk of multimorbidity combining internalizing (depression, anxiety) and cardiometabolic disorders (diabetes, hypertension). The effect is stronger in women for internalizing conditions. These findings extend the phenotypic spectrum of NDD CNVs beyond neurodevelopment to systemic adult diseases, with implications for genetic counseling of adult carriers.

Synthesis written by Geno'X. For the full original abstract, please refer to the source publication.

This work has direct implications for genetic counseling of NDD-CNV carriers: follow-up should integrate cardiometabolic and psychiatric assessment in adulthood, in addition to neurodevelopmental monitoring. Useful data for anticipating the pediatrics-to-adult transition, particularly for 22q11.2, 1q21.1, and 16p11.2 deletions.

Clinical impact: 2/3 · Evidence strength: 2/3 · Novelty: 1/2 · Sample size: 1/1 · Publication status: 1/1 → Total: 7/10