ArticleEar and hearing
Similar phenotypes caused by mutations in OTOG and OTOGL.
Article in Ear and hearing. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 1 of them a synthesis that pooled it.
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Who cites it
14 citing papers in PubMed, 1 synthesis or guideline pooled it, 35 citations in OpenAlex.
- A genome-wide meta-analysis uncovers six sequence variants conferring risk of vertigo.Communications biology · 2021Pooled it
- Genetic and Environmental Factors Shaping Hearing Loss: Xenobiotics, Mechanisms and Translational Perspectives.Journal of xenobiotics · 2026Review
- Biallelic Mutations in the Otogelin-Like Gene (OTOGL) Associated With Congenital Non-Syndromic Sensorineural Hearing Loss in a Chinese Family.Molecular genetics & genomic medicine · 2025Article
- Prevalence and Clinical Characteristics ofGenes · 2025Article
- NovelGenes · 2025Article
- MPZL2-a common autosomal recessive deafness gene related to moderate sensorineural hearing loss in the Chinese population.BMC medical genomics · 2024Article
- [Genetic characteristic analysis of slight-to-moderate sensorineural hearing loss in children].Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery · 2024Article
- Article
- Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant.Human genetics · 2022Article
- Comprehensive molecular-genetic analysis of mid-frequency sensorineural hearing loss.Scientific reports · 2021Article
- Otogelin, otogelin-like, and stereocilin form links connecting outer hair cell stereocilia to each other and the tectorial membrane.Proceedings of the National Academy of Sciences of the United States of America · 2019Article
- Delayed Otolith Development Does Not Impair Vestibular Circuit Formation in Zebrafish.Journal of the Association for Research in Otolaryngology : JARO · 2017Article
- Tectorins crosslink type II collagen fibrils and connect the tectorial membrane to the spiral limbus.Journal of structural biology · 2016Article
- Otolith tethering in the zebrafish otic vesicle requires Otogelin and α-Tectorin.Development (Cambridge, England) · 2015Article
Corrections and comments
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Authors and funding
14 authors at 3 institutions in 3 countries.
Funding
Abstract
objectivesRecently, OTOG and OTOGL were identified as human deafness genes. Currently, only four families are known to have autosomal recessive hearing loss based on mutations in these genes. Because the two genes code for proteins (otogelin and otogelin-like) that are strikingly similar in structure and localization in the inner ear, this study is focused on characterizing and comparing the hearing loss caused by mutations in these genes.
designTo evaluate this type of hearing, an extensive set of audiometric and vestibular examinations was performed in the 13 patients from four families.
resultsAll families show a flat to downsloping configuration of the audiogram with mild to moderate sensorineural hearing loss. Speech recognition scores remain good (>90%). Hearing loss is not significantly different in the four families and the psychophysical test results also do not differ among the families. Vestibular examinations show evidence for vestibular hyporeflexia.
conclusionBecause otogelin and otogelin-like are localized in the tectorial membrane, one could expect a cochlear conductive hearing loss, as was previously shown in DFNA13 (COL11A2) and DFNA8/12 (TECTA) patients. Results of psychophysical examinations, however, do not support this. Furthermore, the authors conclude that there are no phenotypic differences between hearing loss based on mutations in OTOG or OTOGL. This phenotype description will facilitate counseling of hearing loss caused by defects in either of these two genes.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.