Vestibular phenotype‐genotype correlation in a cohort of 90 patients with Usher syndrome
| Autor: | Wadih M. Zein, Carmen C. Brewer, Rabia Faridi, Talah T Wafa, Andrew J. Griffith, Julie M. Schultz, Ekaterini Tsilou, Thomas B. Friedman, Amy Turriff, Christopher K. Zalewski, Rizwan Yousaf, Robert J. Morell, Kelly A. King, Julie A. Muskett |
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| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
0301 basic medicine
Adult Pathology medicine.medical_specialty Adolescent Usher syndrome 030105 genetics & heredity Cohort Studies 03 medical and health sciences Young Adult Genotype Genetics medicine otorhinolaryngologic diseases Humans Prospective Studies Child Genetics (clinical) Cervical Vestibular Evoked Myogenic Potentials Genetic Association Studies Balance (ability) Aged Vestibular system Vestibular areflexia novel variants vestibular business.industry balance Original Articles Middle Aged medicine.disease Phenotype 030104 developmental biology atypical Usher syndrome Cohort Evoked Potentials Auditory Original Article Female sense organs Vestibule Labyrinth business Energy Intake Usher Syndromes |
| Zdroj: | Clinical Genetics |
| ISSN: | 1399-0004 0009-9163 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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