So far six different de novo mutations in DHX30 (NM_138615.2) in twelve unrelated individuals have been reported. Notably, each mutation leads to a substitution of a conserved residue within one of the eight highly conserved motifs within the helicase core region, which either mediate either ATP binding/hydrolysis or RNA binding.
Functional analyses have shown that these missense mutations either impair DHX30´s ATPase activity or RNA recognition. Moreover, mutant proteins exhibit an increased propensity to trigger stress granule formation resulting in global translation inhibition.
Mutations in DHX30 can be identified using molecular genetic testing, directly by sequencing the DHX30 gene or by exome/genome sequencing.