2022 Volume 43 Issue 3 Pages 336-342
Dominant deafness-onychodystrophy (DDOD) syndrome is an autosomal dominant genetic disorder characterized by sensorineural hearing loss and nail dysplasia. DDOD syndrome has been reported due to c.1516C>T[p.(Arg506*)] mutation in ATP6V1B2 gene. Here we report a female case of DDOD syndrome. She was diagnosed as a congenital bilateral severe sensorineural hearing by auditory steady-state response at the age of 3 months. A genetic testing (exosome analysis) revealed ATP6V1B2 c.1516C>T[p.(Arg506*)] gene mutation. She started using bilateral hearing aids at the age of 5 months, but no obvious change in auditory behavior was observed. She underwent bilateral cochlear implantation at the age of 11 months. Postoperative hearing threshold reached the steady state of 30–40 dB one month after the implantation. The auditory and speech behavior assessments also improved postoperatively. Because of few reports on DDOD syndrome, the usefulness of cochlear implantation is not yet elucidated. Further accumulation of the cases with cochlear implantation for the sensorineural hearing loss in DDOD syndrome should be warranted.
