ArticleClinical genetics2021
Vestibular phenotype-genotype correlation in a cohort of 90 patients with Usher syndrome.
Article in Clinical genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 37 citations in OpenAlex.
- Identification of a recessiveVeterinary and animal science · 2026Article
- From Sound to Stability: Lessons Learned From the CRUSH Study on Hearing Loss Progression and Vestibular Phenotype in Usher Syndrome Type 2A.Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology · 2026Observational
- Genetic diversity of Usher syndrome in Moroccan patients.Human genetics · 2026Article
- Compound heterozygous splicing and missense variants inFrontiers in medicine · 2026Article
- Current approaches for Usher syndrome disease models and developing therapies.Frontiers in cell and developmental biology · 2025Review
- Article
- Characterization of Vestibular Phenotypes in Patients with Genetic Hearing Loss.Journal of clinical medicine · 2024Article
- Vestibulo-ocular reflex dynamics with head-impulses discriminates Usher patients type 1 and 2.Scientific reports · 2024Article
- Spectrum of variants associated with inherited retinal dystrophies in Northeast Mexico.BMC ophthalmology · 2024Article
- Dual-AAV vector-mediated expression ofMolecular therapy. Methods & clinical development · 2023Article
- Expression of the human usherin c.2299delG mutation leads to early-onset auditory loss and stereocilia disorganization.Communications biology · 2023Article
- Variants of LRP2, encoding a multifunctional cell-surface endocytic receptor, associated with hearing loss and retinal dystrophy.Clinical genetics · 2023Article
- Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants.Human genetics · 2022Article
- Genetics, pathogenesis and therapeutic developments for Usher syndrome type 2.Human genetics · 2022Review
- Genetic hearing loss: the audiologist's perspective.Human genetics · 2022Article
- Usher Syndrome.Audiology research · 2022Review
- Novel Missense and Splice Site Mutations inFrontiers in genetics · 2022Article
- TrigenicHeliyon · 2021Article
- Usher Syndrome: Genetics of a Human Ciliopathy.International journal of molecular sciences · 2021Review
- Vestibular phenotype-genotype correlation in a cohort of 90 patients with Usher syndrome.Clinical genetics · 2021Article
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Authors and funding
14 authors at 2 institutions in 1 country.
Funding
Abstract
Usher syndrome has been historically categorized into one of three classical types based on the patient phenotype. However, the vestibular phenotype does not infallibly predict which Usher genes are mutated. Conversely, the Usher syndrome genotype is not sufficient to reliably predict vestibular function. Here we present a characterization of the vestibular phenotype of 90 patients with clinical presentation of Usher syndrome (59 females), aged 10.9 to 75.5 years, with genetic variants in eight Usher syndromic genes and expand the description of atypical Usher syndrome. We identified unexpected horizontal semicircular canal reactivity in response to caloric and rotational stimuli in 12.5% (3 of 24) and 41.7% (10 of 24), respectively, of our USH1 cohort. These findings are not consistent with the classical phenotypic definition of vestibular areflexia in USH1. Similarly, 17% (6 of 35) of our cohort with USH2A mutations had saccular dysfunction as evidenced by absent cervical vestibular evoked myogenic potentials in contradiction to the classical assumption of normal vestibular function. The surprising lack of consistent genotypic to vestibular phenotypic findings as well as no clear vestibular phenotypic patterns among atypical USH cases, indicate that even rigorous vestibular phenotyping data will not reliably differentiate the three USH types.
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