Mutations in DDX3X are a common cause of unexplained intellectual disability with gender-specific effects on Wnt signaling
Original research article by Snijders Blok et al. (2015).
Read the abstract here.
This article considers the effect that changes in the DDX3X gene have on females’ behavioral, developmental, and physical features. Participants were females with unexplained intellectual disability (ID). ID affects 1% to 3% of the human population and is more commonly reported in males than in females. The majority of genetic changes associated with ID occur in males. However, changes in the DDX3X gene are more commonly associated with ID in females. This study identified 38 females with de novo (new) DDX3X changes and analyzed their characteristics. The following table lists the common characteristics the researchers observed:
|Clinical Features of Females with a DDX3X Gene Change|
|Percentage (%)||Number of individuals with condition|
|Intellectual disability or developmental delay||100||38/38|
|Mild or mild-moderate disability||26||10/38|
|Moderate or moderate-severe disability||26||10/38|
|Movement disorder (including spasticity)||45||17/38|
|Corpus callosum hypoplasia||35||13/37|
|Cleft lip or palate||8||3/38|