Two intronic cis-acting variants in both alleles of the POLR3A gene cause progressive spastic ataxia with hypodontia

Keyphrases

• POLR3A 100%
• Hypodontia 100%
• Cis-acting 100%
• Spastic Ataxia 100%
• POLR3A Gene 100%
• Related Disorders 40%
• Pathogenic Variants 40%
• Affected Siblings 40%
• Healthy Siblings 40%
• Homozygosity 40%
• Genotype-phenotype Correlation 40%
• Early childhood 20%
• Transfer RNA (tRNA) 20%
• Biallelic 20%
• Clinical Features 20%
• Clinical Consequences 20%
• Exome Sequencing 20%
• Large Subunit 20%
• Non-coding RNA (ncRNA) 20%
• Compound Heterozygous mutation 20%
• All-affected 20%
• Phenotypic Analysis 20%
• Dysregulation 20%
• Unaffected Siblings 20%
• Associated Phenotypes 20%
• Dysmorphism 20%
• DNA-dependent RNA Polymerase 20%
• Variable Phenotype 20%
• Childhood-onset 20%
• Gonadal Dysfunction 20%
• Adolescent-onset 20%
• RNA Polymerase III 20%
• Progeroid Features 20%
• Progeroid 20%
• Progeria 20%
• Wiedemann-Rautenstrauch Syndrome 20%

Biochemistry, Genetics and Molecular Biology

• Allele 100%
• Homozygosity 33%
• Wild Type 16%
• Exome Sequencing 16%
• Non-Coding RNA 16%
• Progeria 16%
• RNA Polymerase I 16%
• RNA Polymerase III 16%
• Transfer RNA 16%