Tag: 7q11.23

BAZ1B haploinsufficiency and the neurophenotypes of Williams syndrome

Williams syndrome (WS) is a neurodevelopmental disorder caused by deletions in the 7q11.23 chromosomal region. Individuals with WS show developmental delays, learning disabilities and excessively social behavior. Interestingly, individuals with duplications of this same chromosomal region display a symmetrically opposite phenotype with regard to social behavior. This genomic segment therefore offers a unique opportunity to understand the molecular underpinnings of social behaviors.

Children with 7q11.23 duplication syndrome: shared characteristics with autism

Autism can be caused by a number of different genetic alterations, some of which result in known syndromes. In 2011, a genetic study of a large sample of children in the Simons Simplex Collection, a database of genetic and clinical information from families that include one child with autism, showed a strong association between duplication of the Williams syndrome chromosomal region (7q11.23) and autism.

Subscribe to our newsletter and receive SFARI funding announcements and news