Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
Original research article by B.J. O’Roak et al. (2012).
Read the abstract here.
The researchers performed whole exome sequencing on members of 209 families (677 people) who participated in the Simons Foundation’s Simons Simplex Collection, which includes children with autism and intellectual disability. The study identified over 100 new genes, including CTNNB1, in which changes may be related to developmental delay, intellectual disability, or features of autism. The change in CTNNB1, noted in one person, was de novo (not inherited from either parent).
The authors note that the CTNNB1 gene is involved in a molecular process called chromatin remodeling. Understanding which genes are involved in the chromatin remodeling process is currently an active area of genetic and autism research.