DHX30 syndrome
A rare neurodevelopmental disorder caused by DHX30 gene mutations.
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DHX30 syndrome is a rare genetic disorder that disrupts brain development, caused by pathogenic variants in the gene encoding the ATP-dependent RNA helicase DHX30. It is classified as a neurodevelopmental disorder with variable clinical severity, and many affected individuals show symptoms in infancy. The condition was previously termed NEDMIAL, but that name is no longer considered appropriate because some individuals learn to speak and walk.
Cause
Most cases of DHX30 syndrome arise from de novo pathogenic mutations in the DHX30 gene, occurring spontaneously in the egg, sperm, or early fetal development. Some individuals inherit the mutation from a parent who may not show symptoms, a phenomenon related to penetrance or expressivity. A parent with germline mosaicism may carry the mutation only in some egg or sperm cells. Missense variants can cause gain-of-function, while loss-of-function variants such as nonsense and frameshift mutations tend to result in milder clinical outcomes.
Did You Know?
- Many individuals are not diagnosed until after they miss developmental milestones or begin to have seizures.
- No cure for DHX30 syndrome is currently available, and treatment focuses on alleviating symptoms.
More in Neurological Disorders in Children
Sources
Compiled from Wikipedia and the sources listed below. Text from Wikipedia is available under CC BY-SA 4.0; this entry is adapted from it.
- Wikipedia: DHX30 syndrome (CC BY-SA 4.0).
- Word definitions: the , each quoted from its Wikipedia article.
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