Relevance to Autism

Gene-based genome-wide association studies in a discovery cohort of 160 Belgian Flemish families with at least one child affected with non-syndromic ASD identified significant association of the ODAD4 gene (previously known as TTC25) with quantitative autistic trait using the Social Responsive Scale (SRS) and the Social Responsiveness Scale for Adults (SRS-A) (effect size=10.2, P=3.4E-07); this gene also showed nominally significant association (P=0.045) in the Erasmus Rucphen Family (ERF) general population cohort (Vojinovic et al., 2017). Gene-based association in the discovery cohort was driven by nine variants, four of which showed nominally significant association with quantitative autistic trait (P < 0.05); three of these variants were predicted to have regulatory functions according to RegulomeDB.

Molecular Function

This gene encodes a tetratricopeptide repeat domain-containing protein that localizes to ciliary axonmenes and plays a role in the docking of the outer dynein arm to cilia. Mutations in this gene cause severely reduced ciliary motility and the disorder CILD35 (ciliary dyskinesia,primary, 35). Primary ciliary dyskinesia is often associated with recurrent respiratory infections, immotile spermatozoa, and situs inversus; an inversion in left-right body symmetry.

External Links

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