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A report of gonadal mosaicism in DHX30-related neurodevelopmental disorder.

Introduction De novo pathogenic missense variants in DHX30 have been reported to cause a neurodevelopmental disorder (MIM # 617804). DHX30-related disorder has been described in 12 unrelated individuals in the current literature (Lessel et al., 2017; Eldomery et al., 2017). Features that were reported in association with this condition included microcephaly, intellectual disability, motor developmental delay, muscular hypotonia, gait ataxia (or inability to walk), autistic features, cerebral MRI anomalies, seizures, sleep disturbances, feeding difficulties, strabismus, generalized hirsutism, and joint hypermobility. DHX30 belongs to the DExH-box family of helicases, which unwind RNA secondary structures using ATP hydrolysis DHX30 pathogenic variants reported to date have been missense changes and were found to interfere with RNA binding or ATPase activity (Lessel et al., 2017).