POLR3 related leukodystrophy

Genetics

• This is usually caused by mutations in the POLR3A and POLR3B genes
• It has also been reported with bi-allelic POLR1C mutations
• POLR3A mutations present with a worse phenotype
• The mutations result in hypomyelination

References

1. La Piana R, Tonduti D, Gordish Dressman H, et al. Brain magnetic resonance imaging (MRI) pattern recognition in Pol III-related leukodystrophies. J Child Neurol 2014; 29:214-220.
2. Wolf NI, Vanderver A, van Spaendonk RM, et al. Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations. Neurology 2014; 183:1898-1905.
3. Vanderver A, Tonduti D, Bernard G, et al. More than hypomyelination in Pol-III disorder. J Neuropathol Exp Neurol 2013; 72:67-75.
4. Gauquelin L, Cayami FK, Sztriha L, et al. Clinical spectrum of POLR3-related leukodystrophy caused by biallelic POLR1C pathogenic variants. Neurol Genet 2019; 5:e369. 
5. Campopiano R, Ferese R, Zampatti S, et al. A novel POLR3A genotype leads to leukodystrophy type-7 in two siblings with unusually late age of onset. BMC Neurol 2020; 20:258.
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Related checklists

• Sialic acid storage diseases
• Nasu-Hakola disease
• Jacobsen syndrome
• Leukodystrophies with high lactate
• Other hypomyelinating disorders