6533b831fe1ef96bd12982b8

RESEARCH PRODUCT

Estudio genético molecular del síndrome de Usher en España

T. JaijoE. AllerM. BeneytoJ.m. MillánE. AllerC. Nájera

subject

Geneticsmedicine.medical_specialtyGenetic heterogeneitybusiness.industryHearing lossUsher syndromeDiseaseAudiologymedicine.diseaseeye diseasesAutosomal recessive traitOtorhinolaryngologyRetinitis pigmentosaotorhinolaryngologic diseasesmedicineVestibular dysfunctionAge of onsetmedicine.symptombusiness

description

Usher syndrome (USH) associates deafness and retinitis pigmentosa (RP). It is a disease both clinically and genetically heterogeneous. It is inherited as an autosomal recessive trait and its prevalence makes it the most frequent association of hearing loss and RP. Clinically Usher syndrome is divided into type I (USH1), II (USH2) and III (USH3), according to the severity of hearing loss, age of onset of RP and the existence or not of vestibular dysfunction. There are at least 7 different localizations for USH1 and 5 genes have been identified. For USH2, 3 loci and 2 genes have been reported and USH3 is due to Clarin-1 gene. Our aim is to perform a clinical and genetic characterization of all Usher syndrome patients in Spain.

yearjournalcountryeditionlanguage
2005-01-01Acta Otorrinolaringológica Española
https://doi.org/10.1016/s0001-6519(05)78616-7