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Nonmuscle myosin heavy chain IIA mutation and hearing loss in two cases of MYH9-related disease

MYH9-related disease is a rare disorder associated with the risk of developing progressive sensorineural hearing loss, nephropathy, cataracts, and/or liver enzyme alterations during childhood or adult life. To date, many reports on MYH9 disorder exist but only a few have provided a detailed description of the onset, degree of deafness, and shape of audiogram in individuals with this disorder. Further, the correlation between genotype–phenotype and hearing impairment and these descriptions were not very detailed. We described two particular cases that stand out from those described in the literature: two cases with an early diagnosis and an early auditory evaluation with the possibility to analyze the initial stages of hearing impairment. In addition, we confirm and reinforce the idea recently described in the literature that patients with mutations in the head domain have a higher risk of early-onset deafness than patients with mutations in the tail domain.