Autoszomális domináns
Caused by a change in one copy of TUBB4B, a tubulin protein that forms part of the internal skeleton of cilia. The changes interfere with the normal protein and can arise de novo.
Tünetek és jelek
Severe retinal dystrophy beginning in infancy or childhood, often with sensorineural hearing loss. Some people have primary ciliary dyskinesia, with chronic chest and sinus infections. The combination of features varies with the specific change.
Mit változtat a diagnózis
Eye and hearing care with low-vision and hearing support, respiratory physiotherapy and infection management where airway cilia are affected. Some cases arise de novo, but genetic counselling and parental testing guide recurrence risk.
Vizsgált gének
1 kapcsolódó altípust tartalmaz ↓Altípusok elrejtése ↑
- Leber congenital amaurosis with early-onset deafness
MONDO:1060115Források: [1][2][3]
