Alternate gene names: none
Associated syndromes or conditions: none known
Genomic location: 21q22.2
Diagnoses observed in people with changes in the DSCAM gene:
- Autism Spectrum Disorder – Yes
- Intellectual Disability or Developmental Delay - Yes
- Epilepsy or Seizures - No
- Attention Deficit Hyperactivity Disorder – No
- Schizophrenia – No
- Bipolar Disorder – No
DSCAM: Simons VIP Connect Community- Simons VIP Connect Facebook Group for DSCAM Families
- In addition to the opportunity to participate in research with Simons VIP, you may be interested in other opportunities.
Research Article Summaries:
De Rubeis, S., et al. 2014. Synaptic, transcriptional and chromatin genes disrupted in autism. Nature.
In one of the largest whole exome studies to date, researchers analyzed 15,480 DNA samples—which included over 3,800 samples from individuals diagnosed with features of autism, intellectual disability, developmental delay, and/or other health concerns. By studying such large number of samples, the researchers were looking to identify new or undescribed genetic causes of autism.
Of the 33 different genes identified in children with autism, 15 genes were already known to be associated with features of autism and have already been well described. Eleven “newer” genes were identified- SUV420H1, ADNP, BCL11A, CACNA2D3, CTTNBP2, CDC42BPB, APH1A, GABRB3, NR3C2, SETD5, and TRIO - this study provides evidence that these genes are associated with the features of autism(because whole exome sequencing is a newer technology and our understanding of the genetic causes of autism is still growing, until now we had not seen a large enough number of children with changes in these genes to make any conclusions). In addition, seven other genes identified in this study are being described for the first time as autism risk genes: ASH1L, MLL3 (KMT2C), ETFB, NAA15, MUY9B, MIB1, and VIL1.
A harmful change in the DSCAM gene was identified in at least one child with autism in this sample.
- Barlow et al. (2001) This gene is part of the Down syndrome critical region. When there's a third copy (duplication) of this gene, as in children with Down syndrome, we see a higher frequency of heart defects.
You can also visit SFARI's website to see information for researchers about this gene. SFARIgene: DSCAM
Back to: Genetic Changes We're Studying