ArticleFrontiers in pediatrics2022
Case report: Clinical and genetic analysis of a family with nonsyndromic auditory neuropathy.
Article in Frontiers in pediatrics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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2 citing papers in PubMed, 0 citations in OpenAlex.
- The Genetic Causes of Auditory Neuropathy: A Systematic Review.Journal of clinical medicine · 2026Review
- Audiological Phenotype, Natural History, and Intervention in Chinese Patients With Auditory Neuropathy Caused by OTOF Variants.Ear and hearingArticle
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Authors and funding
5 authors at 3 institutions in 1 country.
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Abstract
Background: Auditory neuropathy (AN) is a hearing disorder caused by the failure of inner hair cells, auditory nerve synapses and/or auditory nerves. With the development of high-throughput sequencing technology, the genetic factors of AN have been revealed, and genetic testing has become an important tool for identifying different types of AN. Case description: To study the genetic cause of nonsyndromic auditory neuropathy in a Chinese family. The family was from Henan Province with three affected individuals. The audiological examinations were performed on the affected individuals, and whole-exome sequencing was carried out on the proband. The suspected pathogenic variants screened by the bioinformatic analysis were validated using Sanger sequencing in the family members. We identified three novel variants c.3277G > A ( Conclusion: New pathogenic/likely pathogenic variants of the
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