Molecular characteristics
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.
Diagnosis/testing
Mutations in DHX30 can be identified using molecular genetic testing, directly by sequencing the DHX30 gene or by exome/genome sequencing.