Autism Reports / Total Reports1 / 1
Rare Variants / Common Variants2 / 0
AliasesMKX, C10orf48, IFRX, IRXL1
Genetic CategoryRare Single Gene Mutation
Relevance to Autism
Two de novo missense variants that were predicted to be probably damaging (defined as MPC 2) were identified in the MKX gene in ASD probands from the Autism Sequencing Consoritum, while an additional protein-truncating variant in this gene was observed in a case sample 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 MKX as a candidate gene with a false discovery rate (FDR) 0.01.
The protein encoded by this gene is an IRX family-related homeobox protein that may play a role in cell adhesion.
Reports related to MKX (1 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||-|
Rare Variants (2)
|Status||Allele Change||Residue Change||Variant Type||Inheritance Pattern||Parental Transmission||Family Type||PubMed ID||Author, Year|
|c.265C>T||p.Leu89Phe||missense_variant||De novo||NA||Simplex||31981491||Satterstrom FK , et al. (2020)|
|c.277C>G||p.Arg93Gly||missense_variant||De novo||NA||Multiplex||31981491||Satterstrom FK , et al. (2020)|
No common variants reported.