MIR96 was first reported in relation to autosomal dominant nonsyndromic hearing loss in 2009 (Mencía et al., PMID: 19363479). Three variants (single nucleotide changes in microRNA) that have been reported in three probands in two publications (PMIDs: 19363479, 22038834) are included in this curation. The mechanism of pathogenicity is reported to be loss of function. This gene-disease relationship is also supported by expression studies in mouse ear hair cells, biochemical function demonstrating the role of MIR96 as a regulator of genes involved in hearing, and multiple model systems replicating the human phenotype (PMIDs: 19363478, 21245307, 25759012, 26988146, 29325119, 29476110). In summary, there is moderate evidence to support this gene-disease relationship. While more evidence is needed to establish this relationship definitively, no convincing contradictory evidence has emerged. This gene-disease pair was originally evaluated by the Hearing Loss GCEP on March 11, 2020. It was reevaluated on September 20, 2023. As a result of this reevaluation, the classification did not change due to a lack of new evidence.
The GenCC data are available free of restriction under a CC0 1.0 Universal (CC0 1.0) Public Domain Dedication. The GenCC requests that you give attribution to GenCC and the contributing sources whenever possible and appropriate. The accepted Flagship manuscript is now available from Genetics in Medicine (https://www.gimjournal.org/article/S1098-3600(22)00746-8/fulltext).
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