title: Audiological findings in 100 USH2 patients.
abstract: Bilateral sensorineural hearing loss (HL), classically described as mild to severe with a typically down-sloping audiometric configuration, is the earliest symptom occurring in Usher syndrome type II (USH2). Audiological findings were analyzed in a total of 100 USH2 patients (92 families) divided into three groups according to the gene involved: 88 USH2A, 10 GPR98 and 2 DFNB31 patients. A fine analysis of audiograms was performed (pure tone average, degree of severity, configuration). The median age of HL diagnosis was 5 years (range 8 months-31 years) although the median age at USH2 diagnosis was 34.5 (range 8-76). Moderate HL was predominant (76%) and a gently down-sloping configuration characterized most audiograms (66%). No statistically significant difference was found between USH2A and GPR98 patients but a tendency was clearly noted for more GPR98 patients to present with severe hearing loss. It is not possible to predict the mutated gene from audiograms.
authors: CHU Montpellier, Laboratoire de Génétique Moléculaire, 641 Avenue du Doyen Gaston Giraud, Montpellier, France.
authors: C
authors: C
authors: Abadie
authors: C
authors: C
authors: Blanchet
authors: D
authors: D
authors: Baux
authors: L
authors: L
authors: Larrieu
authors: T
authors: T
authors: Besnard
authors: P
authors: P
authors: Ravel
authors: R
authors: R
authors: Biboulet
authors: C
authors: C
authors: Hamel
authors: S
authors: S
authors: Malcolm
authors: M
authors: M
authors: Mondain
authors: M
authors: M
authors: Claustres
authors: A-F
authors: AF
authors: Roux
mesh_terms: D000293:Adolescent; D000328:Adult; D001298:Audiology / Q000379:methods*; D001299:Audiometry / Q000379:methods; D002648:Child; D002675:Child, Preschool; D003430:Cross-Sectional Studies; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D005260:Female; D005838:Genotype; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D009154:Mutation; D043562:Receptors, G-Protein-Coupled / Q000235:genetics; D055815:Young Adult
chemical_list: C417525:ADGRV1 protein, human; D016326:Extracellular Matrix Proteins; D008565:Membrane Proteins; D043562:Receptors, G-Protein-Coupled; C112735:USH2A protein, human; C477219:WHRN protein, human