RNA genes

Variants in RNA genes can cause hereditary disease by impairing the function of RNA molecules. In general, this occurs by alterations of RNA folding. At least five types of RNA genes may be affected

• tRNA (e.g., MELAS syndrome causes by variants in the MT-TL1 gene - e.g., NC_012920.1(MT-TL1):m.3243A>G)
• LINCs: cartilage hair hypoplasia (CHH) is caused by variants in RMRP, a long non-coding RNA (lnc-RNA) component of the RNase mitochondrial RNA processing complex. RMRP
• Small Nuclear RNA (snRNA), core components of the spliceosome. For instance, RNU4-2 is mutated in ReNU syndrome
• miRNA genes. For instance, variants in MIR96 have been identified in Deafness, autosomal dominant 50. Machowska et al (2022) provide a useful overview.