There are some known examples of mutations in ncRNAs, aside from those mentioned already, that give recognizable phenotypes or that are strongly implicated in altered phenotypic states. These include a triplet repeat expansion in the ncRNA SCA8, which causes the human neurodegenerative disease Spinocerebellar Ataxia 8 (which as a transgene can induce progressive retinal neurodegeneration in Drosophila) [39] and other examples of deleterious gain-of-function mutations in noncoding RNAs associated with diseases such as myotonic dystrophy [185], deletions encompassing ncRNA loci and alterations to ncRNA splicing patterns in various cancers [47],[106],[158],[161],[186],[187], and a SNP variant in an ncRNA MIAT that confers risk of myocardial infarction [188]. They also include many ncRNAs, including small nucleolar RNAs, that appear to be important in the mechanism of imprinting [189] and the molecular etiology of associated pathologies such as Prader-Willi syndrome [190],[191], some that are implicated as tumour suppressors [168],[192], or that are located at chromosomal translocation breakpoints associated with B-cell lymphoma [193] and schizophrenia [194]. It has also been shown that the translocation and induced expression of an antisense, long ncRNA can cause the epigenetic silencing of the adjacent α-globin gene, resulting in α-thalassemia [195].
