ANK3-related neurodevelopmental disorder
Incidence
ANK3-related neurodevelopmental disorder is a rare genetic condition caused by mutations in the ANK3 gene, which encodes the ankyrin-G protein crucial for neuronal communication. The disorder can follow an autosomal dominant (one altered gene copy) or recessive (two altered copies) inheritance pattern.
Clinical Characteristics
ANK3-related neurodevelopmental disorder is a rare genetic condition. It is characterized by variable intellectual disability, developmental delay, speech/language delays, and behavioral issues like autism spectrum disorder (ASD) and ADHD. Other potential features include epilepsy, muscular hypotonia, and sleep disturbances. Beyond specific, rare syndromes, ANK3 mutations have been strongly associated with a broader spectrum of neuropsychiatric conditions, including bipolar disorder, schizophrenia, and autism.
Precipitants
None
Provocation Tests
None.
Diagnostic Procedures
Diagnosed through genetic testing. WGS testing.