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Published on: July 1, 2015
High frequency of OTOF mutations in Chinese infants with congenital auditory neuropathy spectrum disorder
1Department of Otolaryngology/ Head and Neck Surgery, Chinese PLA Institute of Otolaryngology, Chinese PLA General Hospital, Beijing, China.
Insights
Mutations in the OTOF gene are a significant cause of auditory neuropathy spectrum disorder (ANSD) in Chinese children. Identifying these OTOF mutations aids in diagnosing and managing congenital hearing loss.
Area of Science:
- Genetics
- Otolaryngology
- Pediatrics
Background:
- Auditory neuropathy spectrum disorder (ANSD) causes hearing and speech impairments in children.
- The OTOF gene is linked to non-syndromic ANSD, with OTOF mutations improving outcomes after cochlear implantation.
- The prevalence of OTOF mutations in Chinese ANSD patients remains unclear, hindering effective management.
Purpose of the Study:
- Investigate the role of OTOF gene mutations in Chinese infants and young children with congenital ANSD.
- Determine the frequency and spectrum of OTOF mutations in this population.
- Correlate OTOF mutations with clinical and audiometric features.
Main Methods:
- Screening of all exons of the OTOF gene in 37 infants and young children with ANSD.
- Focusing on 34 patients with congenital ANSD (no neonatal risk factors).
- Clinical and audiometric data analysis for patients with and without OTOF mutations.
Main Results:
- OTOF mutations were identified in 41.2% of congenital ANSD patients (14 out of 34).
- Fifteen novel and 10 previously reported pathogenic OTOF mutations were discovered.
- Significant contribution of OTOF mutations to congenital ANSD in the Chinese population was confirmed.
Conclusions:
- Mutations in the OTOF gene are a primary cause of congenital auditory neuropathy spectrum disorder in China.
- Identifying OTOF mutations is crucial for accurate diagnosis, timely clinical intervention, and genetic counseling for affected families.
- This research provides a foundation for understanding and managing OTOF-related hearing loss in Chinese children.
Abstract:
Auditory neuropathy spectrum disorder (ANSD) is one of the most common diseases leading to hearing and speech communication barriers in infants and young children. The OTOF gene is the first gene identified for autosomal recessive non-syndromic ANSD, and patients with OTOF mutations have shown marked improvement of auditory functions from the cochlear implantation, but the true involvement of OTOF mutations in Chinese ANSD patients is still unknown which precludes the effective management of this disease. Here, we investigated the contribution of OTOF mutations to congenital ANSD patients in China. In all, 37 infants and young Children with ANSD were screened for all the exons of OTOF gene, of them 34 patients had no neonatal risk factors who were considered as congenital ANSD. The clinical manifestation and audiometric features were also investigated and compared in patients with and without OTOF mutations. In all, 14 of these subjects were shown to carry two or three mutant alleles of OTOF with the high frequency of 41.2% in congenital ANSD patients. In total, 15 novel pathogenic mutations and 10 reported mutations were identified. Our results confirmed that mutations in OTOF gene were a major cause of congenital ANSD in China. Identification of OTOF mutations can facilitate diagnosis, clinical intervention and counseling for congenital ANSD.
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