• Response to “Infantile-onset deafness in m.7445A> G carriers may be multicausal”

    9 days ago - By International Journal of Pediatric Otorhinolaryngology

    We would like to thank Dr. Josef Finsterer and Dr. Zarrouk-Mahjoub for their insightful and constructive comments on our study. At first, m.7445A> G heteroplasmy rates reported by Tranah et al. was based on the analysis on platelets and our study was based on the analysis on whole blood cells. Thus, the heteroplasmy rates of the two studies cannot be compared because heteroplasmy rates are various in various organs in cases with mitochondrial diseases .
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  • Infantile-onset deafness in m.7445A> G carriers may be multicausal

    9 days ago - By International Journal of Pediatric Otorhinolaryngology

    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. 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. Hearing impairment in the index case was attributed to the variant m.7445A> G variant outside the tRNA gene. The index case had also inherited the variant c.235delC in the GJB2 gene from his father .
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