ONLINE MUTATION REPORT
MYO7A mutation screening in Usher syndrome type I patients from diverse origins
1 Unidad de Genetica, Hospital Universitario La Fe, Valencia, Spain
2 Departamento de Genetica, Universidad de Valencia, Valencia, Spain
3 UO e Catedra di Genetica Medica, Policlinico S Orsola-Malpighi, Bologna, Italy
4 Departamento de Genetica, Fundacion Jimenez Diaz, Madrid, Spain
5 Unidad de Genética Molecular, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain
6 Departamento de Genetica Molecular, Hospital Ramon y Cajal, Madrid, Spain
7 Servicio de Otorrinolaringologia, Hospital Universitario La Fe, Valencia, Spain
Correspondence to:
Correspondence to:
Dr José M Millán
Unidad de Genetica, Hospital Universitario La Fe, Avda. Campanar, 21, 46009 Valencia, Spain; millan_jos@gva.es
Revised version received 12 September 2006
Accepted 29 September 2006
Abbreviations: PCR, polymerase chain reaction; SSCP, single strand conformational polymorphism; USH, Usher syndrome
| The first 150 words of the full text of this article appear below. |
Usher syndrome (USH) (OMIM 276901 [OMIM] ) is an autosomal recessive disorder characterised by hearing impairment associated with retinitis pigmentosa and in some cases vestibular dysfunction. This disease accounts for approximately 50% of individuals with combined deafness and blindness in developed countries. The estimated prevalence of USH ranges from 3.8 to 6.2/100 000.1–3
Phenotypically, three clinical types of Usher syndrome have been defined according to the severity of hearing impairment, age of retinitis pigmentosa onset and the presence or absence of vestibular response. Usher syndrome type I (USH1) is the most serious type, characterised by severe to profound congenital sensorineural hearing loss, balance deficiency and prepubertal onset of retinitis pigmentosa leading to blindness. USH2 is characterised by moderate to severe hearing impairment, normal vestibular function and later onset of retinal degeneration than USH1. USH3 displays progressive hearing loss, retinitis pigmentosa and variable vestibular phenotype.
Six loci for USH1 (USH1B–USH1G) have been
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