Alternate gene names:KATNA-LIKE2
Associated syndromes or conditions: none known
Genomic location: 18q21.1
Diagnoses observed in people with changes in the KATNAL2 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
KATNAL2: Simons VIP Connect Community- Simons VIP Connect Facebook Group for KATNAL2 Families
Research Article Summaries:
This gene is highly expressed in the central nervous system.
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 KATNAL2 gene was identified in at least one child with autism in this sample.
Neale et al., (2012) found 3 children with mutations in KATNAL2 out of 935 children with autism specrum disorders.
O'Roak et al., (2012) found one child with a mutation in KATNAL2.
- More Coming Soon!
You can also visit SFARI's website to see information for researchers about this gene. SFARIgene: KATNAL2.
Back to: Genetic Changes We're Studying