Axial spondylometaphyseal dysplasia is also caused by NEK1 mutations (original) (raw)

“…A reduced level of C21ORF2 expression has been observed in the brain of individuals with Down syndrome ( Shim et al., 2003 ), suggesting that it may play a key role in neurons. C21ORF2 mutations have been found to cause early-onset retinal dystrophy, Jeune syndrome, and axial spondylometaphyseal dysplasia, the latter of which is also caused by NEK1 mutations ( Khan et al., 2015 ; Wang et al., 2016 , 2017 ; Wheway et al., 2015 ). These conditions are all categorized as ciliopathies, given that they result from dysfunction of the primary cilium, a solitary organelle located at the cell surface that regulates various cellular functions ( Fliegauf et al., 2007 ).…”