Clinical and neuropsychological phenotyping of individuals with somatic variants in neurodevelopmental disorders.

For: All,

This study using the Simons Searchlight cohort (which includes 16p11.2 families) explores how mosaic or somatic genetic variants—where only some cells carry the variant—can cause neurodevelopmental symptoms like developmental delay, autism, and epilepsy, sometimes as severely as inherited (germline) variants, helping families understand why symptom severity can vary.