Human Gene Module / Chromosome 10 / LDB1

LDB1LIM domain binding 1

Score
1
High Confidence Criteria 1.1
Autism Reports / Total Reports
2 / 2
Rare Variants / Common Variants
2 / 0
Aliases
LDB1, CLIM-2,  CLIM2,  LDB-1,  NLI
Associated Syndromes
-
Genetic Category
Rare Single Gene Mutation
Chromosome Band
10q24.32
Associated Disorders
-
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).

Molecular Function

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)
Common Variants  

No common variants reported.

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