{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nGenetic investigation in multiplex families with sensorineural hearing loss has revealed that, in some cases, variants in established hearing loss genes do not account for the phenotype in every affected individual. In one such family, a variant in the candidate gene TOGARAM2 was identified as a potential cause of autosomal recessive non‐syndromic hearing loss. Functional support for its candidacy was provided by evidence that TOGARAM2 is expressed in the cochlea and that its protein product localizes to cochlear hair cells, suggesting an important role in the auditory machinery. These results emphasize the benefit of analyzing all affected family members separately to uncover both known and novel contributors to the genetic heterogeneity of hearing loss."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": ""}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Memoona Ramzan, Mohammad Faraz Zafeer, Clemer Abad, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Genetic heterogeneity in hereditary hearing loss: Potential role of kinociliary protein TOGARAM2."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Eur J Hum Genet (2024)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s41431-024-01562-6"}], "href": "https://doi.org/10.1038/s41431-024-01562-6"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "38374469"}], "href": "https://pubmed.ncbi.nlm.nih.gov/38374469"}]}]}]}