Alternate gene names: BPAG1, BP240
Associated syndromes or conditions: Neuropathy, hereditary sensory and autonomic, type VI; Epidermolysis bullosa simplex, autosomal recessive 2
Genomic location: 6p12.1
Diagnoses observed in people with changes in the DST gene:
- Autism Spectrum Disorder – Yes
- Intellectual Disability or Developmental Delay - No
- Epilepsy or Seizures - No
- Attention Deficit Hyperactivity Disorder – No
- Schizophrenia – Yes
- Bipolar Disorder – No
DST: Simons VIP Connect Community Simons VIP Connect Facebook Group for DST Families
Research Article Summaries:
Below, we've summarized several research articles that include information about DST. We hope you find this information helpful! As we learn more from children who have these gene changes, we expect this list of resources and information to grow.
Kenny et al. (2014)
Over 400 individuals with schizophrenia (SZ) and autism spectrum disorder (ASD) were screened for gene changes in 215 possible “risk” genes. Gene changes in DST were identified in 4 individuals with ASD and 5 individuals with schizophrenia, but also in 3 individuals without social or mental health differences. The authors of this study suggest that there is no additional evidence in the literature supporting rare changes at DST in people with schizophrenia or autism.
Iossifov et al. (2012)
In this study, whole-exome sequencing was performed for 343 families from the Simons Simplex Collection (SSC) who had at least one child with a diagnosis of autism. This study identified 350-400 new “candidate” genes that may be related to the features of autism, including DST. A change that is predicated to cause the gene to not work correctly was identified in one individual and was not inherited from either parent (de novo).
You can also visit SFARI's website to see information for researchers about this gene. SFARIgene: DST
Back to: Genetic Changes We're Studying