PMC7313121_01
(a) Audiogram of the proband (II-1) before and after cochlear implantation and that of his unaffected sister (II-2). (b) Temporal bone Computerized Tomography (CT) scan of the proband (II-1). (c) Cranial Magnetic Resonance Imaging (MRI) of the proband (II-1).
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fig2
He had congenital, bilateral, profound hearing impairment with a threshold above 95 dBHL as revealed by the PTA (Figure 2(a)) and ABR tests. Temporal CT and cranial MRI showed no abnormalities (Figures 2(b) and 2(c)). Hearing was markedly improved after cochlear implantation (Figure 2(a)).
Sanger sequencing results of the c.3658_3662del and c.6177+1G>T mutations in the family members.
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fig3
Cosegregation of these two mutations with the hearing phenotype was confirmed within the family members (Figure 3). The frameshifting c.3658_3662del (p.E1221Wfs*23) mutation is located in exon 3, and it is novel and is predicted to result in a truncated protein after the motor domain (Figure 3).