An Update on the Genetics of Usher Syndrome
Usher syndrome (USH) is an autosomal recessive disease characterized by hearing loss, retinitis pigmentosa (RP), and, in some cases, vestibular dysfunction. It is clinically and genetically heterogeneous and is the most common cause underlying deafness and blindness of genetic origin. Clinically, US...
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| Format: | Article |
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Wiley
2011-01-01
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| Series: | Journal of Ophthalmology |
| Online Access: | http://dx.doi.org/10.1155/2011/417217 |
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| author | José M. Millán Elena Aller Teresa Jaijo Fiona Blanco-Kelly Ascensión Gimenez-Pardo Carmen Ayuso |
| author_facet | José M. Millán Elena Aller Teresa Jaijo Fiona Blanco-Kelly Ascensión Gimenez-Pardo Carmen Ayuso |
| author_sort | José M. Millán |
| collection | DOAJ |
| description | Usher syndrome (USH) is an autosomal recessive disease characterized by hearing loss, retinitis pigmentosa (RP), and, in some cases, vestibular dysfunction. It is clinically and genetically heterogeneous and is the most common cause underlying deafness and blindness of genetic origin. Clinically, USH is divided into three types. Usher type I (USH1) is the most severe form and is characterized by severe to profound congenital deafness, vestibular areflexia, and prepubertal onset of progressive RP. Type II (USH2) displays moderate to severe hearing loss, absence of vestibular dysfunction, and later onset of retinal degeneration. Type III (USH3) shows progressive postlingual hearing loss, variable onset of RP, and variable vestibular response. To date, five USH1 genes have been identified: MYO7A (USH1B), CDH23 (USH1D), PCDH15 (USH1F), USH1C(USH1C), and USH1G(USH1G). Three genes are involved in USH2, namely, USH2A (USH2A), GPR98 (USH2C), and DFNB31 (USH2D). USH3 is rare except in certain populations, and the gene responsible for this type is USH3A. |
| format | Article |
| id | doaj-art-9d3de182c5ac4693a0294c84881f7ca5 |
| institution | Kabale University |
| issn | 2090-004X 2090-0058 |
| language | English |
| publishDate | 2011-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Journal of Ophthalmology |
| spelling | doaj-art-9d3de182c5ac4693a0294c84881f7ca52025-02-03T01:12:19ZengWileyJournal of Ophthalmology2090-004X2090-00582011-01-01201110.1155/2011/417217417217An Update on the Genetics of Usher SyndromeJosé M. Millán0Elena Aller1Teresa Jaijo2Fiona Blanco-Kelly3Ascensión Gimenez-Pardo4Carmen Ayuso5Unidad de Genética, Instituto de Investigación Sanitaria-La Fe, 46009 Valencia, SpainUnidad de Genética, Instituto de Investigación Sanitaria-La Fe, 46009 Valencia, SpainUnidad de Genética, Instituto de Investigación Sanitaria-La Fe, 46009 Valencia, SpainCentro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), 46010 Valencia, SpainCentro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), 46010 Valencia, SpainCentro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), 46010 Valencia, SpainUsher syndrome (USH) is an autosomal recessive disease characterized by hearing loss, retinitis pigmentosa (RP), and, in some cases, vestibular dysfunction. It is clinically and genetically heterogeneous and is the most common cause underlying deafness and blindness of genetic origin. Clinically, USH is divided into three types. Usher type I (USH1) is the most severe form and is characterized by severe to profound congenital deafness, vestibular areflexia, and prepubertal onset of progressive RP. Type II (USH2) displays moderate to severe hearing loss, absence of vestibular dysfunction, and later onset of retinal degeneration. Type III (USH3) shows progressive postlingual hearing loss, variable onset of RP, and variable vestibular response. To date, five USH1 genes have been identified: MYO7A (USH1B), CDH23 (USH1D), PCDH15 (USH1F), USH1C(USH1C), and USH1G(USH1G). Three genes are involved in USH2, namely, USH2A (USH2A), GPR98 (USH2C), and DFNB31 (USH2D). USH3 is rare except in certain populations, and the gene responsible for this type is USH3A.http://dx.doi.org/10.1155/2011/417217 |
| spellingShingle | José M. Millán Elena Aller Teresa Jaijo Fiona Blanco-Kelly Ascensión Gimenez-Pardo Carmen Ayuso An Update on the Genetics of Usher Syndrome Journal of Ophthalmology |
| title | An Update on the Genetics of Usher Syndrome |
| title_full | An Update on the Genetics of Usher Syndrome |
| title_fullStr | An Update on the Genetics of Usher Syndrome |
| title_full_unstemmed | An Update on the Genetics of Usher Syndrome |
| title_short | An Update on the Genetics of Usher Syndrome |
| title_sort | update on the genetics of usher syndrome |
| url | http://dx.doi.org/10.1155/2011/417217 |
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