https://www.selleckchem.com/pr....oducts/hc-030031.htm
To explore the genetic basis for a child manifesting with intellectual disability, language delay and autism spectrum disorder. Genomic DNA was extracted from peripheral blood samples of the child and his family members, and subjected to whole exome sequencing. Candidate variants were verified by Sanger sequencing and interpreted according to the guidelines of the American College of Medical Genetics and Genomics. The child was found to harbor a heterozygous c.568CT (p.Q190X) nonsense variant of the ADNP gene, which was not detect