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Abadie, C; Blanchet, C; Baux, D; Larrieu, L; Besnard, T; Ravel, P; Biboulet, R; Hamel, C; Malcolm, S; Mondain, M; Claustres, M; Roux, A-F
Clinical genetics, November 2012, Letnik: 82, Številka: 5Journal Article
Abadie C, Blanchet C, Baux D, Larrieu L, Besnard T, Ravel P, Biboulet R, Hamel C, Malcolm S, Mondain M, Claustres M, Roux A‐F. Audiological findings in 100 USH2 patients. 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.
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