Clinical Utility of Testing

Clinical data suggest that the major genetic cause of DVA and Mondini dysplasia is mutations in SLC6A44 Because simplex cases include both genetic and nongenetic causes of DVA and Mondini dysplasia, a corollary is that most sporadic cases of DVA (~80%) and many sporadic cases of Mondini dysplasia (~40%) are not genetic and therefore are unlikely to recur in a family. This fact can be used to modify recurrence risks.

There is no concordance between specific SLC26A4 allele variants and audiogram configuration,42 although some mutations may be associated more frequently with specific temporal bone anomalies. For example, Masmoudi et al. studied two families segregating for L445W and found that while affected persons showed phenotypic variability with respect to thyroid disease, the temporal bone imaging revealed only DVA.44

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