Article

Detailed Clinical Features and Genotype-Phenotype Correlation in an OTOF-Related Hearing Loss Cohort in Japan

2021-06-15

Abstract excerpt

<title>Abstract</title> <p><italic>OTOF</italic> is one of the most frequent causes of hereditary hearing loss and a main cause of auditory neuropathy spectrum disorder (ANSD). Although it is reported that most of the patients with <italic>OTOF</italic> mutations have stable, congenital or prelingual onset severe-to-profound hearing loss, some patients show atypical clinical phenotypes, and the genotype-phenotype...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: b8a8ce1d-4304-5ff0-a9b2-9c8f1e37cff5
DOI: 10.21203/rs.3.rs-588334/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Detailed Clinical Features and Genotype-Phenotype Correlation in an OTOF-Related Hearing Loss Cohort in JapanDOI 10.21203/rs.3.rs-588334/v1Read

Detailed clinical features and genotype-phenotype correlation in an OTOF-related hearing loss cohort in Japan.Semantic proximity Read

Audiological Phenotype, Natural History, and Intervention in Chinese Patients With Auditory Neuropathy Caused by OTOF Variants.Semantic proximity Read

A prevalent founder mutation and genotype-phenotype correlations of OTOF in Japanese patients with auditory neuropathy.Semantic proximity Read

The natural history, clinical outcomes, and genotype-phenotype relationship of otoferlin-related hearing loss: a systematic, quantitative literature review.Semantic proximity Read

Hearing loss secondary to variants in the OTOF gene.Semantic proximity Read

Prevalence and Clinical Features of Autosomal Dominant and Recessive TMC1-Associated Hearing Loss.Semantic proximity Read

High frequency of OTOF mutations in Chinese infants with congenital auditory neuropathy spectrum disorder.Semantic proximity Read

The natural history of OTOF-related auditory neuropathy spectrum disorders: a multicenter study.Semantic proximity Read

Identification of novel OTOF compound heterozygous mutations by targeted next-generation sequencing in a Chinese patient with auditory neuropathy spectrum disorder.Semantic proximity Read

Evidence for genotype-phenotype correlation for OTOF mutations.Semantic proximity Read

[The updates of the ACMG variant interpretation guidelines affect the pathogenicity determination of OTOF gene variations in patients with auditory neuropathy].Semantic proximity Read

OTOF mutation analysis with massively parallel DNA sequencing in 2,265 Japanese sensorineural hearing loss patientsSemantic proximity Read