DHX30-related Neurodevelopmental Disorder (NEDMIAL)

DHX30-related Neurodevelopmental Disorder (NEDMIAL) is a neurodevelopmental disorder typically characterized by severe global delay, absent or minimal speech, marked motor impairment, hypotonia, feeding difficulty and abnormal gait. Seizures, movement disorder, microcephaly and brain abnormalities occur variably.

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Genetics

The classic severe phenotype is usually caused by de novo heterozygous missense variants in conserved motifs of the DHX30 helicase core. Haploinsufficiency, non-core variants and rare biallelic variants can produce distinct or milder phenotypes.

Molecular Mechanism

DHX30 is an ATP-dependent RNA helicase involved in ribosome biogenesis, translation, stress-granule dynamics and RNA metabolism. Helicase-core variants reduce ATPase and unwinding activity and can act dominantly to impair global translation and cellular stress responses.

Therapy

No disease-modifying treatment exists. Care is multidisciplinary and addresses epilepsy, nutrition and swallowing, communication, tone, mobility, orthopedic complications and sleep.

CCP Activity

CCP designs and plans comprehensive characterization of a DHX30 disease model, including neurobehavioral, electrophysiological (EEG) phenotyping with comprehensive physiological assessment. The immediate goal is a robust natural-history and endpoint framework for future intervention studies.

Mouse Models Mouse Models & Gene Cards

Mouse Models	Gene Cards
TBD	TBD