Home > Resources > KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant.

KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant.

Proximal Deletion, Proximal Duplication,

All,

Researchers discovered that a single gene called KCTD13 within the 16p11.2 region is a key driver of the opposite brain size differences seen in families with the deletion (larger head size) versus the duplication (smaller head size), which may help explain some of the neurodevelopmental and autism-related symptoms in your child.

Pathophysiology,