Rare gene mutations in romanian hypoacusis patients: case series and a review of the literature

HIGHLIGHTS

SUMMARY

Hearing loss of variable etiology represents a serious health issue worldwide with over 250 million people currently afflicted (data reported by the World Health Organization), which represents 4.2% of the world`s population. The clinical features of mitochondrial hearing loss are: maternal inheritance and sensorineural and primarily symmetrical hearing loss, with involvement of higher or all frequencies; variable penetrance and severity; and in general, childhood onset (postlingually). The authors report on three cases of Romanian children with sensorineural hearing loss in association with a complex phenotype, each with a different, rare gene variant . . .

 



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