An Update on the Genetics of Usher Syndrome
Joint Authors
Millán, José M.
Ayuso, Carmen
Blanco-Kelly, Fiona
Jaijo, Teresa
Aller, Elena
Gimenez-Pardo, Ascensión
Source
Issue
Vol. 2011, Issue 2011 (31 Dec. 2011), pp.1-8, 8 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2010-12-23
Country of Publication
Egypt
No. of Pages
8
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Millán, José M.& Aller, Elena& Jaijo, Teresa& Blanco-Kelly, Fiona& Gimenez-Pardo, Ascensión& Ayuso, Carmen. 2010. An Update on the Genetics of Usher Syndrome. Journal of Ophthalmology،Vol. 2011, no. 2011, pp.1-8.
https://search.emarefa.net/detail/BIM-470524
Modern Language Association (MLA)
Millán, José M.…[et al.]. An Update on the Genetics of Usher Syndrome. Journal of Ophthalmology No. 2011 (2011), pp.1-8.
https://search.emarefa.net/detail/BIM-470524
American Medical Association (AMA)
Millán, José M.& Aller, Elena& Jaijo, Teresa& Blanco-Kelly, Fiona& Gimenez-Pardo, Ascensión& Ayuso, Carmen. An Update on the Genetics of Usher Syndrome. Journal of Ophthalmology. 2010. Vol. 2011, no. 2011, pp.1-8.
https://search.emarefa.net/detail/BIM-470524
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-470524