In a study published in Nature Genetics, researchers have discovered 72 genes strongly linked to autism spectrum disorders (ASD), in addition to 250 other genes found to have a connection to autism.

The genetic exome sequencing data of 15 036 ASD patients, 28,522 parents, 5,492 unaffected siblings, and the rest as controls were examined by the researchers. They found 72 genes that were connected to ASD. De novo variants were observed in 4% of cases compared to 0.5% in controls. 70.1% of the genes linked to developmental delay seemed to be associated with the risk for ASD, while 86.6% of the genes linked to ASD risk also exhibited connections with developmental delay. The researchers found 664 genes having a plausible link and 373 genes highly associated with ASD and/or developmental delay.

Among the 244 genes found to be connected to schizophrenia, 234 genes were related to transmission and de novo association to ASD and/or developmental delay. Eight of the 72 genes connected to ASD are also linked to schizophrenia, while 61 of the genes were linked to developmental delay.

The results represent a significant advancement in the knowledge of the probable genetic basis of ASD. But, they also underscore the difficulties in applying this knowledge in a therapeutically relevant manner in the future. (Medscape - Aug 25, 2022)