A case of auditory neuropathy revealed by OTOF gene mutation analysis in a junior high school girl

• Main Authors: Ying Cheng, Masako Nakamura, Tatsuo Matsunaga, Kimitaka Kaga
• Format: Article
• Language: English
• Published: Elsevier 2017-12-01
• Series: Journal of Otology
• Subjects: Auditory neuropathy; Auditory nerve disease; Auditory neuropathy spectrum disorders; OTOF; Speech discrimination
• Online Access: http://www.sciencedirect.com/science/article/pii/S1672293017300223

Objective: Congenital auditory neuropathy (AN) affects hearing and speech development. The degree of hearing difficulty in congenital AN varies as a function of pathology at the inner ear hair cell (IHC) synapses or the auditory nerve. We report a case of a Chinese girl with AN revealed by OTOF (otoferlin) gene mutation analysis who had only a mild hearing loss. Patient: A 13-year-old Chinese girl was diagnosed as having congenital AN on the basis of OTOF gene mutation analysis. She manifest a mild sensorineural hearing loss with 50% maximum monosyllable speech discrimination rate, normal DPOAEs (distortion product otoacoustic emissions) beyond ambient noise levels, only SPs (summating potentials) evoked during ECoG (electrocochleography) and absent ABRs (auditory evoked brainstem responses) bilaterally to clicks presented at 100 dBnHL. She was able to effectively communicate with others by speech reading owing to her mild hearing loss. Moreover, bilateral hearing aids helped her to communicate. Conclusions: Our patient was demonstrated to have a mutation on the OTOF gene. Nevertheless, she was able to communicate using auditory visual speech reading in spite of a mild auditory threshold elevation probably due to partial pathology at the IHC synapses or in the auditory nerve.