Genotype-phenotype associations in children with Williams syndrome

Takeaway

  • The LIM domain kinase 1 (LIMK1) gene may disrupt the functional connectivity between the intraparietal sulcus (IPS) and the visual and social procession regions of the brain is disrupted in children with Williams syndrome.

Why this matters

  • The LIMK1 gene is hemi-deleted in children with Williams syndrome.

  • Clarifying the association between genotype and phenotype of children with Williams syndrome may improve understanding of their impaired visuospatial abilities and hypersocial personality.