Usher syndrome (USH) is an autosomal recessive disorder characterized by congenital sensorineural hearing impairment and retinitis pigmentosa. Classification distinguishes three clinical types of which type I (USH1) is the most severe, with vestibular dysfunction as an added feature. To date, 15 genes and 3 loci have been identified with the USH1G gene being an uncommon cause of USH. We describe an atypical USH1G-related phenotype caused by a novel homozygous missense variation in a patient with profound hearing impairment and relatively mild retinitis pigmentosa, but no vestibular dysfunction.

Novel USH1G homozygous variant underlying USH2-like phenotype of Usher syndrome / D'Esposito, F.; Randazzo, V.; Cennamo, G.; Centore, N.; Maltese, P. E.; Malesci, R.; D'Andrea, L.; Bertelli, GUJA GRAZIA MARIA; Marciano, E.; de Crecchio, G.; Pioppo, A.; Magli, A.; Cordeiro, M. F.. - In: EUROPEAN JOURNAL OF OPHTHALMOLOGY. - ISSN 1120-6721. - 31:2(2021), pp. 18-22. [10.1177/1120672119879392]

Novel USH1G homozygous variant underlying USH2-like phenotype of Usher syndrome

Cennamo G.;Malesci R.;BERTELLI, GUJA GRAZIA MARIA;Marciano E.;
2021

Abstract

Usher syndrome (USH) is an autosomal recessive disorder characterized by congenital sensorineural hearing impairment and retinitis pigmentosa. Classification distinguishes three clinical types of which type I (USH1) is the most severe, with vestibular dysfunction as an added feature. To date, 15 genes and 3 loci have been identified with the USH1G gene being an uncommon cause of USH. We describe an atypical USH1G-related phenotype caused by a novel homozygous missense variation in a patient with profound hearing impairment and relatively mild retinitis pigmentosa, but no vestibular dysfunction.
2021
Novel USH1G homozygous variant underlying USH2-like phenotype of Usher syndrome / D'Esposito, F.; Randazzo, V.; Cennamo, G.; Centore, N.; Maltese, P. E.; Malesci, R.; D'Andrea, L.; Bertelli, GUJA GRAZIA MARIA; Marciano, E.; de Crecchio, G.; Pioppo, A.; Magli, A.; Cordeiro, M. F.. - In: EUROPEAN JOURNAL OF OPHTHALMOLOGY. - ISSN 1120-6721. - 31:2(2021), pp. 18-22. [10.1177/1120672119879392]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11588/772600
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