Infantile-onset deafness in m.7445A > G carriers may be multicausal

In a recent paper, Matsushima et al. reported about a 2 years and 6 months-old male who developed non-syndromic, progressive impaired hearing by the age of 9 months [1]. The family history was positive for hypoacusis in the father, mother, one maternal and paternal uncle each, maternal grandmother and grandfather, maternal grand uncle, and maternal great-grandmother [1]. Hearing impairment in the index case was attributed to the variant m.7445A>G variant outside the tRNA (Ser) gene [1]. The index case had also inherited the variant c.235delC in the GJB2 gene from his father [1].
Source: International Journal of Pediatric Otorhinolaryngology - Category: ENT & OMF Authors: Tags: Letter to the Editor Source Type: research