Human Gene Module / Chromosome 10 / MKX

MKXmohawk homeobox

Score
1
High Confidence Criteria 1.1
Autism Reports / Total Reports
1 / 1
Rare Variants / Common Variants
2 / 0
Aliases
MKX, C10orf48,  IFRX,  IRXL1
Associated Syndromes
-
Genetic Category
Rare Single Gene Mutation
Chromosome Band
10p12.1
Associated Disorders
-
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.

Molecular Function

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)
Common Variants  

No common variants reported.

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