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CASE REPORT
Year : 2018  |  Volume : 24  |  Issue : 4  |  Page : 270-273

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


Department of Otorhinolaryngology and Head and Neck Surgery, University Hospital Center of Porto, Porto, Portugal

Correspondence Address:
Dr. Joana Raquel Correia Carvalho da Costa
Centro Hospitalar Universitario do Porto, Largo do Prof. Abel Salazar, 4099-001 Porto
Portugal
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/indianjotol.INDIANJOTOL_66_18

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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.


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