SATB1SATB homeobox 1
Autism Reports / Total Reports1 / 2
Rare Variants / Common Variants3 / 0
Genetic CategoryRare Single Gene Mutation
Relevance to Autism
Two de novo variants in the SATB1 gene (one protein-truncating, one missense) were identified in ASD probands from the Autism Sequencing Consortium, while three additional protein-truncating variants in this gene were observed in case samples from the Danish iPSYCH study (Satterstrom et al., 2020). TADA analysis of de novo variants from the Simons Simplex Collection and the Autism Sequencing Consortium and protein-truncating variants from iPSYCH in Satterstrom et al., 2020 identified SATB1 as a candidate gene with a false discovery rate (FDR) between 0.01 and 0.05 (0.01 < FDR 0.05).
This gene encodes a matrix protein which binds nuclear matrix and scaffold-associating DNAs through a unique nuclear architecture. The protein recruits chromatin-remodeling factors in order to regulate chromatin structure and gene expression.
Reports related to SATB1 (2 Reports)
|#||Type||Title||Author, Year||Autism Report||Associated Disorders|
|1||Primary||Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism||Satterstrom FK et al. (2020)||Yes||-|
|2||Support||Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability||Chevarin M et al. (2020)||No||Marfanoid habitus|
Rare Variants (3)
|Status||Allele Change||Residue Change||Variant Type||Inheritance Pattern||Parental Transmission||Family Type||PubMed ID||Author, Year|
|c.1205A>G||p.Gln402Arg||missense_variant||De novo||NA||Simplex||31981491||Satterstrom FK et al. (2020)|
|c.1460del||p.Pro487GlnfsTer6||frameshift_variant||De novo||NA||Simplex||31981491||Satterstrom FK et al. (2020)|
|c.1004_1005del||p.Arg335ThrfsTer20||frameshift_variant||De novo||NA||Unknown||32277047||Chevarin M et al. (2020)|
No common variants reported.