Blok et. al. published a paper titled "Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling" that supported the argument of DDX3X being a candidate intellectual disability gene. Blok et. al. found that  de novo mutations in DDX3X affect up to 3% of females with unexplained intellectual disability. The authors also found that de novo DDX3X mutations occur in some X-linked intellectual disability families. Based on these findings, the Greenwood Genetic Center screened XLID families as well as a cohort of 400 females with intellectual disability to determine the degree of contribution of mutations in DDX3X to intellectual disability in the South Carolina population. Results will be presented.

Determination of the degree of contribution of mutation in DDX3X to intellectual disability in the South Carolina population

251st National Meeting (2016)

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