Changes in both copies of POLR3B cause POLR3-related hypomyelinating leukodystrophy (4H leukodystrophy), in which the brain's white matter is poorly formed. POLR3B is part of RNA polymerase III, which makes RNA molecules such as rRNA and tRNA that cells need.
Tünetek és jelek
In the recessive form, unsteadiness (ataxia), tremor and slowly progressive motor problems begin in early childhood, with delayed or missing teeth, delayed puberty and short-sightedness. Intellectual disability can occur.
Mit változtat a diagnózis
Care involves physiotherapy and mobility support, dental care, and hormone assessment with treatment when needed. Genetic counselling explains the recessive inheritance, and carrier testing of relatives can be offered.
Vizsgált gének
2 kapcsolódó altípust tartalmaz ↓Altípusok elrejtése ↑
- Charcot-Marie-Tooth disease, demyelinating, IIA 1I
- leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism
