Article
Interpretation challenges of novel dual-class missense and splice-impacting variant in POLR3A-related late-onset hereditary spastic ataxia.
Molecular genetics & genomic medicine - 1 Sept 2020
Morales-Rosado Joel A, Macke Erica L, Cousin Margot A, Oliver Gavin R, Dhamija Radhika, Klee Eric W
Abstract excerpt
BACKGROUND: RNA polymerase III (Pol III)-related disorders are autosomal recessive neurodegenerative disorders caused by variants in POLR3A or POLR3B. Recently, a novel phenotype of adult-onset spastic ataxia was identified in individuals with the c.1909+22G>A POLR3A variant in compound heterozygosity. METHODS: Whole-exome sequencing was performed in the proband and parents. Variants were confirmed by Sanger...
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