Aliases: CDO1, HPE11, ORCAM,CDON
Chromosome No: 11
Chromosome Band: 11q24.2
Genetic Category: Rare single gene variant
ASD Reports: 4
Recent Reports: 0
Annotated variants: 15
Associated CNVs: 7
Evidence score: 2
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Relevance to Autism
Genome-wide investigation of tandem repeats in 17,231 genomes of families with autism from the Autism Speaks MSSNG project and the Simons Simplex Collection in Trost et al., 2020 identified a rare tandem repeat expansion in the CDON gene (chr11:126063945-126066092 (AAGAGGTGGCAGTATT)) in six unrelated ASD probands. This tandem repeat in CDON was observed in more than 0.1% of ASD-affected individuals in this cohort and had a frequency less than 0.1% in unaffected siblings, 1000 Genomes, and 1,612 additional population controls from GTEx and the Mayo Clinic Biobank.
Molecular Function
This gene encodes a cell surface receptor that is a member of the immunoglobulin superfamily. The encoded protein contains three fibronectin type III domains and five immunoglobulin-like C2-type domains. This protein is a member of a cell-surface receptor complex that mediates cell-cell interactions between muscle precursor cells and positively regulates myogenesis. Heterozygous mutations in this gene are associated with holoprosencephaly (holoprosencephaly-11; OMIM 614226).
External Links
