Autoszomális domináns
Caused by changes in one copy of SPTBN1, which encodes beta-II spectrin, a structural protein important for the shape and connections of nerve cells. Most changes arise de novo.
Tünetek és jelek
Developmental delay with prominent speech and language delay, and intellectual disability ranging from mild to severe. Autistic features, behavioural and movement abnormalities, and low muscle tone are common, and seizures occur in a subset. Facial differences are variable.
Mit változtat a diagnózis
Developmental, speech and educational support, with behavioural and neurological assessment and treatment of seizures if they occur. Most cases arise de novo, but a parent can carry the change, so genetic counselling and parental testing guide recurrence risk.
Vizsgált gének
