LDB1LIM domain binding 1
Autism Reports / Total Reports2 / 2
Rare Variants / Common Variants2 / 0
AliasesLDB1, CLIM-2, CLIM2, LDB-1, NLI
Genetic CategoryRare Single Gene Mutation
Relevance to Autism
Two de novo protein-truncating variants in the LDB1 gene were identified in ASD probands from the Autism Sequencing Consortium (De Rubeis et al., 2014; Satterstrom et al., 2020), while additional protein-truncating variants were observed in case and control 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 LDB1 as a candidate gene with a false discovery rate (FDR) between 0.01 and 0.05 (0.01 < FDR 0.05).
Binds to the LIM domain of a wide variety of LIM domain-containing transcription factors. May regulate the transcriptional activity of LIM-containing proteins by determining specific partner interactions. Plays a role in the development of interneurons and motor neurons in cooperation with LHX3 and ISL1. Acts synergistically with LHX1/LIM1 in axis formation and activation of gene expression.
Reports related to LDB1 (2 Reports)
|#||Type||Title||Author, Year||Autism Report||Associated Disorders|
|1||Primary||Synaptic, transcriptional and chromatin genes disrupted in autism.||De Rubeis S , et al. (2014)||Yes||-|
|2||Recent recommendation||Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism||Satterstrom FK et al. (2020)||Yes||-|
Rare Variants (2)
|Status||Allele Change||Residue Change||Variant Type||Inheritance Pattern||Parental Transmission||Family Type||PubMed ID||Author, Year|
|c.306del||p.Met103CysfsTer2||frameshift_variant||De novo||NA||Simplex||25363760||De Rubeis S , et al. (2014)|
|c.906del||p.Gly304AlafsTer4||frameshift_variant||De novo||NA||Simplex||31981491||Satterstrom FK et al. (2020)|
No common variants reported.