2022 Volume 43 Issue 3 Pages 343-349
We present two pediatric patients of progressive hearing loss with heterozygous p.A684V mutation in WFS1 gene from independent two Japanese families.
One patient is a 4-year-old girl. She had passed the Newborn Hearing Screening (NHS), however, delayed speech was pointed out at the age of 18 months. Auditory brainstem response (ABR) thresholds of bilateral ears were both over 100 dBnHL at 23 months of age. Heterozygous mutation in the WFS1 gene (c.2051C>T: p.A684V) was detected by genetic testing at the age of 2 years and 6 months. Bilateral cochlear implantations were performed at the age of 2 years and 6 months, and 3 years and 5 months, respectively, because of insufficient benefits of hearing aids. The conditioned orientation response audiometry (COR) under wearing cochlear implants demonstrated threshold ranging from 35–40 dB at the age of 3 years and 9 months, and the speech and language development has been improving now.
The other patient is an 18-month-old boy. Although NHS at 3 weeks of age demonstrated bilateral refer result, the ABR threshold was 40 dBnHL on the right ear and 30 dBnHL on the left ear. However, the thresholds had increased to 75 dBnHL and 70 dBnHL on respective ears at the age of 4 months, and hearing aids were begun to be used in both ears. Heterozygous mutation in the WFS1 gene (c.2051C>T: p.A684V) was detected by genetic testing at the age of 13 months. No symptoms other than hearing loss have not been found in both patients, and they have been observed by the department of otolaryngology, ophthalmology, and pediatrics.
