Tubulinopathy (TUBA1A, TUBB2A)
Autoszomális domináns
Caused by a change in one copy of a tubulin gene such as TUBA1A or TUBB2A, which encode building blocks of microtubules needed for nerve cell migration. Changes usually arise de novo and alter the protein rather than removing it.
Tünetek és jelek
Developmental delay, intellectual disability and seizures, with brain malformations on imaging such as lissencephaly (smooth brain), polymicrogyria, underdeveloped corpus callosum and abnormally shaped basal ganglia. Small head size and movement problems are common. Severity ranges from mild to profound.
Mit változtat a diagnózis
Seizure treatment, physiotherapy, feeding and developmental support guided by a neurologist. Most cases arise de novo, so genetic counselling and parental testing guide recurrence risk.
Szintén szereplő specifikus formák
8 kapcsolódó altípust tartalmaz ↓Altípusok elrejtése ↑
- complex cortical dysplasia with other brain malformations 5
- complex cortical dysplasia with other brain malformations 6
- fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement
- skin creases, congenital symmetric circumferential, 1
- TUBB-related tubulinopathy
- TUBB3-related tubulinopathy
- tubulinopathy-associated dysgyria
- Uner Tan Syndrome
